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Biomedical subjects

W Fraser

Publications and source records attributed to W Fraser.

At least 37 records · Page 2Linked to original sources
PubMed1996

The gene for X-linked hypophosphataemic rickets maps to a 200-300kb region in Xp22.1, and is located on a single YAC containing a putative vitamin D response element (VDRE).

The location of the HYP gene, which determines X-linked hypophosphataemic rickets, has been refined considerably by linkage analysis, and three new microsatellite primers isolated, Cap32 (DXS7473), Cap29 (DXS7474) and 7v2 (DXS7475). The locations of four other markers have also been determined (DXS1226, AFMa176zb1, AFMa152wc5, and AFM346azc1). Markers Cap29 and Cap32 are the closest distal markers to the gene with zetamax=11.93, thetamax= 0.018 and zetamax=12.03, thetamax = 0.015 respectively. Both Cap29 and Cap32 are proximal to DXS365 and AFMa176zb1, as deduced by screening non-chimaeric yeast artificial chromosomes (YACs) from a contig spanning the HYP gene. A single crossover places AFMa176zbl distal to the disease gene. There are no recombinations between 7v2 and HYP (zetamax=12.9, thetamax=0.0), or between 7v2 and adjacent markers Cap32, Cap29, AFMa176zb1, DXS1683 and DXS365. However screening of YAC clones encompassing the HYP gene and also P1 clones localises 7v2 distal to Cap29 and Cap32, and proximal to DXS443. Marker DXS1226 is placed outside the region containing the gene, and is located proximal to DXS274 as confirmed by a crossover for this marker and DXS41 against HYP and its presence on YAC 83B05. Genetic mapping of CEPH pedigrees, and screening of YACs places AFMa152wc5 and AFMa346zcl between DXS1683 and DXS1052. The following gene marker map presents the best order for the HYP region: Xptel-DXS43-DXS999-DXS443-(DXS365/DXS74 75/AFMa176zb1)-(DXS7474/DXS7473)-HYP- DXS1683-(AFMa152wc5/AFMa346zc1)-DXS1052-DXS 274 -(DXS41/DXS1226)-Xcen. The distance between the cluster of distal flanking markers Cap29 (DXS7474), Cap32 (DXS7473), and DXS1683 is approximately 300 kb, as deduced from physical map data from a YAC contig spanning the gene. Thus the gene for HYP is contained within a single YAC (900AO472). Of further interest, is the location of a putative vitamin D response element (VDRE) on this YAC.

Base Sequence↗
PubMed1996

Employee drug use, demographic characteristics, work reactions, and absenteeism.

Employees in a large work organization participated in an investigation of relationships between drug use and absenteeism and tardiness. Specifically, the study investigated the extent to which both self-reported and urine-screened drug use accounted for variance in several types of absenteeism, as well as tardiness, above and beyond that accounted for by demographic and work reaction variables. The results showed that employee drug use accounted for additional statistically significant variance in overall absenteeism and in absenteeism due to injuries and suspensions, as well as days tardy. Implications of these findings for organizational drug testing are discussed.

Absenteeism↗
PubMed1996

Disruption of estrogen receptor gene prevents 17 beta estradiol-induced angiogenesis in transgenic mice.

Estrogen is known to modulate angiogenesis, both under physiological and pathological conditions, and has been demonstrated to augment angiogenesis induced by bFGF in a mouse model. We have modified this mouse model and measured the apparent plasma volume in Matrigel plugs containing basic fibroblast growth factor (bFGF) in wild type and estrogen receptor knockout, ovariectomized mice in the presence and absence of exogenous 17 beta estradiol. The apparent plasma volume was determined by measuring the fluorescence of the excised plug 10 min. after injection of fluoroscein labeled dextran 150. In wild type mice exogenous 17 beta estradiol increased the apparent plasma volume of the Matrigel plug and the uterine weight significantly. In the estrogen receptor knockout mice exogenous 17 beta estradiol caused a small, but significant increase in uterine weight but was without effect on the apparent plasma volume of the Matrigel plug. It is concluded that functional estrogen receptors are essential for the augmentation of bFGF-induced angiogenesis by exogenous 17 beta estradiol in female mice.

Animals↗
PubMed1996

Short-term night-shift working mimics the pituitary-adrenocortical dysfunction in chronic fatigue syndrome.

The purpose of this study was to determine whether a short period (5 days) of night-shift work affected the pituitary-adrenal responses to CRH. Ten nurses (8 female and 2 male; age 28.1 +/- 1.7 yr: mean +/- SEM) working at the Royal Liverpool University Hospital, and who regularly undertook periods of night and day shift work were enrolled. Measurements were made of basal ACTH and cortisol concentrations, and their responses to iv ovine CRH (1 microgram.kg-1). Basal ACTH concentrations were higher during the night shift than during the day shift (12.9 +/- 5.1 pmol.L-1 vs. 4.7 +/- 1.2 pmol.L-1, P < 0.01) whereas cortisol concentrations were lower (551 +/- 48 nmol.L - 1 vs. 871 +/- 132 nmol.L - 1, P < 0.01). After CRH injection, ACTH concentrations remained consistently higher during the night shift, but the integrated increase in ACTH concentration was lower (P < 0.05) than during the day shift. Conversely, the increase in cortisol concentration was greater during the night shift than the day shift (283 +/- 53 nmol.L-1 vs. 134 +/- 41 nmol.L-1, P < 0.05). We conclude that the pituitary-adrenal responses to CRH are markedly disrupted after only 5 days of nighttime work. These abnormalities mimic those previously observed in patients with chronic fatigue syndrome. Neuroendocrine abnormalities reported to be characteristic of chronic fatigue syndrome may be merely the consequence of disrupted sleep and social routine.

Adrenal Cortex↗
PubMed1996

The effect of routine early amniotomy on spontaneous labor: a meta-analysis.

OBJECTIVE: To obtain estimates of the effects of amniotomy on the risk of cesarean delivery and on other indicators of maternal and neonatal morbidity (Apgar score less than 7 at 5 minutes, admission to neonatal intensive care unit [NICU]). DATA SOURCES: Published studies were identified through manual and computerized searches using Medline and the Cochrane Collaboration Pregnancy and Childbirth Database. METHODS OF STUDY SELECTION: Our search identified ten trials, all published in peer-reviewed journals. Trials were assigned a methodological quality score based on a standardized rating system. Three trials were excluded from the analysis for methodological limitations. TABULATION, INTEGRATION, AND RESULTS: Data were abstracted by two trained reviewers. Typical odds ratios (OR) were calculated. Amniotomy was associated with a reduction in labor duration varying from 0.8-2.3 hours. There was a nonstatistically significant increase in the risk of cesarean delivery; OR 1.2, 95% confidence interval (CI) 0.9-1.6. The risk of a 5-minute Apgar score less than 7 was reduced in association with early amniotomy (OR 0.5, 95% CI 0.3-0.9). Groups were similar with respect to other indicators of neonatal status (arterial cord pH, NICU admissions). CONCLUSION: Routine early amniotomy is associated with both benefits and risks. Benefits include a reduction in labor duration and a possible reduction in abnormal 5-minute Apgar scores. This meta-analysis provides no support for the hypothesis that routine early amniotomy reduces the risk of cesarean delivery. An association between early amniotomy and cesarean delivery for fetal distress was noted in one large trial, suggesting that amniotomy should be reserved for patients with abnormal labor progress.

Amnion↗
PubMed1996

Lateralization of parathyroid adenomas by intra-operative parathormone estimation.

A simple method for intra-operative lateralization of parathyroid adenomas by venous sampling for intact parathormone (PTH [1-84] is described. After induction of anaesthesia, percutaneous right and left internal jugular and arm vein PTH [1-84] was estimated within 30 minutes by a modification of the Allegro PTH [1-84] assay. Twenty-three patients with primary hyperparathyroidism due to adenoma were explored, 21 with one adenoma and two with two adenomas. Intraoperative jugular PTH [1-84] correctly lateralized 16 (76%) of the single adenomas (P < 0.006), and the side of the neck with the greater weight of parathyroid adenoma in 18 (78%) patients (P < 0.004). Two patients with previous failed neck explorations were correctly lateralized. Thallium/technetium scanning lateralized 41%, significantly less then jugular PTH [1-84] (P < 0.02). Adenomas of 1 g or less were more likely to be lateralized by PTH [1-84] than thallium/technetium scanning (P < 0.05). Intraoperative jugular PTH [1-84] was superior to thallium/technetium scanning for parathyroid adenoma lateralization.

Adenoma↗
PubMed1995

Choice of treatment affects plasma levels of insulin-like growth factor-binding protein-1 in noninsulin-dependent diabetes mellitus.

Insulin-like growth factor (IGF)-binding protein-1 (IGFBP-1) modulates the metabolic and mitogenic effects of IGFs. Although IGFBP-1 levels are abnormally high in insulin-dependent diabetes (IDDM), relatively little is known in NIDDM; conflicting data have suggested both high and low levels. We investigated whether treatment modifies IGFBP-1 levels in two groups of NIDDM patients. Study 1 examined fasting concentrations in groups of patients with NIDDM, comparable except for treatment type (sulfonylurea, n = 23; once daily insulin, n = 15; sulfonylurea plus once daily insulin, n = 14; multiple insulin injections, n = 9) and 25 nondiabetic subjects. In sulfonylurea-treated patients there were markedly reduced plasma IGFBP-1 concentrations (median, interquartile range in parentheses): control, 61.0 (36-96) micrograms/L; sulfonylureas alone, 31.5 (21-61) micrograms/L (P < 0.01); and sulfonylureas plus insulin, 31.5 (9-53) micrograms/L (P < 0.01). Once daily insulin was associated with values similar to those in the control group [62.0 (27-103) micrograms/L; P = NS], whereas IGFBP-1 levels were higher with multiple insulin injection therapy [156.0 (71-184) micrograms/L; P < 0.05]. Proinsulin levels were higher in sulfonylurea-treated patients, but there was no significant correlation between IGFBP-1 and proinsulin within any individual group. Study 2 examined the effects of treatment on the dynamics of IGFBP-1 levels between 0800-1900 h. In control subjects (n = 8), levels fell from 0800 h (mean +/- SEM, 22.4 +/- 5.2 micrograms/L) to 1000 h (14 +/- 5.2 micrograms/L), followed by a rise, more rapid after food, to a peak at 1240 h (20.6 +/- 3.7 micrograms/L). Levels then declined until 1500 h (10.7 +/- 2.9 micrograms/L), with a further postprandial peak at 1840 h (23.1 +/- 3.2 micrograms/L). Sulfonylurea therapy (n = 6) resulted in a complete loss of this pattern, with a marked fall in IGFBP-1 from 0800 h (22 +/- 2.7 micrograms/L) to less than 7 micrograms/L for the remainder of the study (area under the curve, 1150-1400 h, P < 0.001 vs. control). By contrast, in metformin-treated patients (n = 7), neither IGFBP-1 levels nor postprandial peaks were significantly different from those in the control group. Our findings suggest that in patients with NIDDM, the regulation of IGFBP-1 is markedly influenced by the choice of treatment.

Carrier Proteins↗
PubMed1994

A small cell bronchogenic carcinoma associated with tumoral hypophosphataemia and inappropriate antidiuresis.

A patient is described with small cell carcinoma of the lung, associated with profound hypophosphataemia and hyponatraemia. Increased phosphate excretion and inappropriately high urine osmolality were observed. The abnormalities are consistent with tumoral hypophosphataemia and inappropriate antidiuresis. These tumour-related metabolic abnormalities have only been described once before with this malignancy.

Aged↗
PubMed1994

Linguistics, human communication and psychiatry.

BACKGROUND: Psycholinguistics and sociolinguistics have extended our understanding of the abnormal communication seen in psychosis, as well as that of people with autism and Asperger's syndrome. Psycholinguistics has the potential to increase the explanatory power of cognitive and neuropsychological approaches to psychosis and new methods of assessment and therapy are now being developed, based on linguistic theory. METHOD: A MEDLINE literature search was used. RESULTS: Of 205 relevant articles identified, 65 were selected for review. CONCLUSIONS: Greater familiarity with linguistic theory could improve psychiatrists' assessment skills and their understanding of the relevance of human communication to the new cognitive models of psychosis.

Brain Damage, Chronic↗
PubMed1993

Lip fibromas associated with retrovirus-like particles in angel fish.

Fibromas were observed on the lips of adult female and juvenile angel fish (Pterophyllum scalare) from 3 Florida farm populations. Tumor prevalence in each population was < 1%. Affected fish were clinically normal except for those with large tumors, which had weight loss caused by physical obstruction of food intake. Fibromas originated as elevated masses from the mucocutaneous junction near the midline of the upper and/or lower lips. Characteristic features included dense fibrous stroma covered by thickened, stratified squamous epithelium, numerous intraneoplastic teeth, and scattered foci of stromal inflammation. Electron microscopy revealed intracytoplasmic type-A retrovirus-like particles in stromal cells from all tumors. Attempts to transmit fibromas, using a cell-free tumor ultrafiltrate, were unsuccessful. The relationship of the intraneoplastic viral particles to the development of lip fibromas in angel fish is uncertain.

Animals↗
PubMed1993

Prenatal diagnosis of trisomy 9 mosaic presenting as a case of Dandy-Walker malformation.

Trisomy 9 syndrome is a rare chromosomal anomaly associated with specific patterns of multisystem dysmorphism and occasional central nervous system (CNS) malformations, the most common being the Dandy-Walker malformation. Milder anomalies are usually seen with trisomy 9 mosaicism. We report what we believe to be the first case of a baby with an isolated Dandy-Walker malformation which was diagnosed prenatally and was subsequently found to have a trisomy 9 mosaic syndrome.

Adult↗
PubMed1992

Nature and frequency of chromosomal abnormalities in pregnancies with abnormal ultrasound findings: an analysis of 117 cases with review of the literature.

During a 7-year period, 117 fetal karyotypes were available from 131 genetic amniocenteses. These procedures were performed between 14 and 37 weeks' gestation for the following abnormal ultrasound findings: (1) intrauterine growth retardation (IUGR)--61 cases; (2) fetal malformation--71 cases; and (3) amniotic fluid volume (AFV) abnormality--60 cases. Chromosomal abnormalities were identified in 19 cases (16.2 per cent). Aneuploidy was 2.5 times as frequent in the presence of malformations than in their absence. No correlation was demonstrated between specific fetal malformations and specific chromosomal abnormalities. Aneuploidy was also twice as frequent in the presence of symmetrical IUGR than in its absence. No chromosomal abnormalities were found among eight cases of asymmetrical IUGR. Four cases of aneuploidy presented with isolated IUGR, three of these involving the X chromosome. The frequency of aneuploidy was the same with or without abnormalities of AFV (14.3 versus 16.4 per cent). No chromosomal abnormality was found associated with isolated AFV abnormalities.

Adult↗
PubMed1992

The effects of systemic intraoperative hypothermia on the acute-phase and endocrine response to cardiac surgery.

To determine the ability of intraoperative hypothermia to modify changes in the plasma protein component of the acute-phase response (APR) and the plasma hormone component of the endocrine response (ER) to surgical injury, 20 patients undergoing coronary artery surgery were randomised to an intraoperative blood temperature of 28 degrees C or 20 degrees C during cardiopulmonary bypass (CPB). Serial measurements of pack-cell-volume corrected concentrations (PCVCC) of five plasma proteins (albumin, prealbumin, transferrin, caeruloplasmin, ferritin) and six plasma hormones (adrenaline, noradrenaline, cortisol, triiodothyronine, thyroxine, and thyroid-stimulating hormone) were obtained twice preoperatively, seven times during surgery, six times in the 24 hours following surgery, and a further four times until the seventh postoperative day. A more profound level of intraoperative hypothermia significantly reduced the plasma adrenaline response to CPB but not the other components of the ER or APR.

Acute-Phase Reaction↗
PubMed1992

Extracorporeal shockwave lithotripsy of gallstones: clinical experience with 170 patients.

Between Jan. 19, 1989 and Nov. 23, 1990, 170 patients with symptomatic cholelithiasis were evaluated for possible treatment by extracorporeal shockwave lithotripsy (ESWL). Thirty-one patients were not eligible for treatment, 28 (16%) because of nonvisualization of gallstones by ultrasonography and 3 (2%) because polyps were erroneously diagnosed on ultrasonography. Thirteen (8%) patients failed to comply with the protocol, leaving 126 patients for assessment. At the time of writing, the treatment success rate is 57% at 6 months and 69% at 9 months. Treatment failed in 21 (17%) patients because of unsatisfactory fragmentation in 16 (13%) patients, frequent biliary colic in 3 (2%) patients, acute pancreatitis in 1 (0.8%) patient and severe bile-salt-induced diarrhea in 1 (0.8%) patient. Complications included biliary colic (40 patients), mild diarrhea on bile salts (24 patients), severe diarrhea (1 patient), macroscopic hematuria (4 patients), acute pancreatitis (2 patients) and vagal shock (1 patient). This study demonstrates the effectiveness (87%) of the lithotripter in reducing gallstones to fragments 5 mm in diameter or smaller. However, complete disappearance of these fragments with adjuvant bile-salt therapy may take many months.

Adult↗
PubMed1987

Temporal variation in rates of cesarean section for dystocia: does "convenience" play a role?

The purpose of this study is to test the hypothesis that convenience for the physician plays a role in the rate of cesarean section performed because of dystocia. Three time periods were defined (night, 12 midnight to 7:59 AM; day, 8 AM to 5:59 PM; evening, 6 PM to 11:59 PM) based on the work commitments and daily routines of the obstetrician. Rates of cesarean section for dystocia were determined for each of the three time periods. An evening peak in the cesarean section rate is partially but not entirely explained by an evening increase in the proportion of patients in prolonged labor. When patients were stratified according to labor duration (less than 12, 12 to 15, and greater than 16 hours), a persistent evening excess in the rate of cesarean section for dystocia was observed for patients whose labor duration was less than 16 hours. Although this is interpreted as being consistent with the hypothesis of physician convenience, the magnitude of this effect on the overall rate of cesarean section for dystocia is small.

Cesarean Section↗
PubMed1986

Effects of inert gas narcosis on the vestibular ocular reflex.

A study was conducted to examine the vestibular ocular reflex (VOR) during narcosis. The slow phase velocity of the nystagmus was measured in six subjects by means of electronystagmography during the inhalation of 25% nitrous oxide. It was found that nitrous oxide increased the velocity of the slow phase component of the VOR by approximately 50%. This result indicates that the gain of the VOR is effectively increased during nitrous oxide induced narcosis. It appears that the vestibular end organs and/or the central pathways controlling nystagmus are affected by nitrous oxide and this may be a reason for the disruption in balance associated with inert gas narcosis.

Adult↗