Prenatal detection of fetal Down's syndrome.
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Down Syndrome↗
Biomedical subjects
P Bennett
Publications and source records attributed to P Bennett.
Forensic issues in pain: review of current practice.
Forensic activity in pain practice is reviewed with reference to the differing roles of the pain clinician and the independent expert. Ethical guidelines and recommendations for assessment, documentation, record review, and court testimony are discussed. Specific issues include the assessment of disability and impairment, malingering, and application of the Daubert standard in forensic pain practice. Examples of case law are reviewed for civil liability and CRPS, malpractice with opioid prescribing, and practice issues in a correctional setting.
Journal Article↗
Maternal risk factors for fetal and neonatal brain damage.
Prematurity is probably the major factor associated with brain damage in newborns. Our growing knowledge of the biochemical mechanisms leading to the onset of labour at term allows the biochemical correlates of the epidemiological risk factors for prematurity to be understood. Infection is the major cause of early preterm labour and is now recognised to be a major cause of fetal cerebral damage leading to cerebral palsy. Only some 5% of cerebral palsy is due to intrapartum asphyxia at term. This may occur due to an obstetric catastrophe or through inadequate placental function leading to chronic intrapartum asphyxia.
Birth Injuries↗
Prostaglandins, the fetal membranes and the cervix.
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Animals↗
Cardiac coping style, heartbeat detection, and the interpretation of cardiac events.
OBJECTIVES: Vigilance to, and avoidance of, cardiac sensations and symptoms were explored in three studies. DESIGN AND METHODS: In the first study, a self-report measure of cardiac vigilance and cardiac avoidance, the Cardiac Coping Inventory (CCI), was administered to 453 students, and its factor structure, internal consistency, and test-retest reliability were established. In the second, 31 undergraduates completed the CCI, and their cardioceptive sensitivity was measured on a heartbeat detection task. In a third study of 91 patients with suspected myocardial infarction, the role of coping styles in symptom interpretations was analysed. RESULTS: Cardiac avoidance and vigilance were independent of general symptom reporting tendencies. Cardiac vigilance was negatively correlated with heartbeat detection. Among the patients, delay in seeking treatment was predicted by the perceived importance of chest pain, which was influenced by the intensity of chest pain and cardiac vigilance. CONCLUSIONS: Although individuals high in cardiac vigilance do not seem to be good detectors of their heartbeats in the laboratory, they appear to attach importance to heart symptoms in real life, resulting in a health-protective behaviour.
Journal Article↗
Circulating hematopoietic progenitor cells in first trimester fetal blood.
The yolk sac and aorto-gonad-mesonephros region are well recognized as the principal sites of hematopoiesis in the developing embryo, and the liver is the principal site of hematopoiesis in the fetus. However, little is known about circulating hematopoietic stem and progenitor cells in early fetal life. We investigated the number and characteristics of circulating progenitors in first trimester blood of 64 human fetuses (median gestational age, 10(+4) weeks; range, 7(+6)-13(+6) weeks). CD34+ cells accounted for 5.1 +/- 1.0% of CD45+ cells in first trimester blood, which is significantly more than in term cord blood (0.4 +/- 0.03%; P =.0015). However, the concentration of CD34+ cells (6.6 +/- 2.4 x 10(4)/mL) was similar to that in term cord blood (5.6 +/- 3.9 x 10(4)/mL). The total number of progenitors cultured from unsorted mononuclear cells (MNCs) in first trimester blood was 19.2 +/- 2.1 x 10(3)/mL, which is similar to that in term cord blood (26.4 +/- 5.6 x 10(3)/mL). All lineages were seen: colony-forming unit-GEMM (CFU-GEMM), CFU-GM, BFU-e, BFU-MK, and CFU-MK. Clonogenic assays of CD34+ cells purified from first trimester samples produced mainly two lineages: BFU-e (39.0 +/- 9.6 x 10(3)/mL CD34+ cells) and CFU-GEMM (22.6 +/- 4.7 x 10(3)/mL CD34+ cells). Short-term liquid culture of first trimester blood MNCs in SCF + IL-3 + Flt-3 (stem cell factor + interleukin-3 + Flt-3) increased, by 7-fold, the numbers of CFU-GEMM and induced a dramatic increase in BFU-e (65.6 +/- 12.1-fold). These data show that significant numbers of committed and multipotent progenitors with capacity for expansion circulate in first trimester fetal blood and can be CD34 selected. These cells should be suitable targets for gene transfer and stem cell transplantation and, because fetal hematopoietic progenitors have been demonstrated in the maternal circulation from early gestation, may also be manipulated for noninvasive prenatal diagnosis of major genetic disorders. (Blood. 2000;95:1967-1972)
Antigens, CD34↗
Smoking habits in multiple system atrophy and progressive supranuclear palsy. European Study Group on Atypical Parkinsonisms.
OBJECTIVE: To evaluate smoking habits in patients with multiple system atrophy (MSA) and progressive supranuclear palsy (PSP) in a multicenter case-control study to determine whether these two forms of atypical parkinsonism share the inverse association with smoking previously found in PD. BACKGROUND: No epidemiologic studies have been performed on smoking habits in MSA. A previous investigation in PSP revealed no differences in smoking habits between patients and hospital control subjects. METHODS: Seventy-six MSA patients, 55 PSP patients, 140 PD patients, and 134 healthy control subjects were enrolled consecutively at seven neurologic clinics from January 1, 1994, to July 31, 1998. Detailed information on smoking habits was obtained using a structured questionnaire. RESULTS: The comparison between frequencies of never-smokers versus ever-smokers (ex-smokers/current smokers; adjusted odds ratio [ORadj], 0.56; 95% CI, 0.29 to 1.06) and a dose-response analysis for never-smokers, moderate smokers (ORadj, 0.64; 95% CI, 0.31 to 1.32), and heavy smokers (ORadj, 0.47; 95% CI, 0.21 to 1.05) suggest that MSA patients smoke less than population control subjects. By contrast, the comparison of frequencies of never-smokers versus ever-smokers (ORadj, 0.91; 95% CI, 0.42 to 1.98) and a dose-response analysis for never-smokers, moderate smokers (ORadj, 0.68; 95% CI, 0.27 to 1.69), and heavy smokers (ORadj, 1.24; CI 95%, 0.51 to 3.06) revealed no differences in smoking habits between PSP patients and population control subjects. CONCLUSIONS: The fact that the inverse association with smoking found previously in PD is shared by multiple system atrophy but not by progressive supranuclear palsy lends epidemiologic support to the notion that different smoking habits are associated with different groups of neurodegenerative disease.
Aged↗
pUB2380: characterization of a ColD-like resistance plasmid.
A detailed analysis of the mobilizable, ColE1-like resistance plasmid, pUB2380, is reported. The 8.5-kb genome encodes six (possibly seven) major functions: (1) a ColD-like origin of replication, oriV, with associated replication functions, RNAI and RNAII; (2) a set of active mobilization functions highly homologous to that of ColE1, including the origin of transfer, oriT; (3) a ColE1-like multimer resolution site (cer); (4) a kanamycin-resistance determinant, aph, encoding an aminoglycoside-3'-phosphotransferase type 1; (5) an insertion sequence, IS1294; and (6) two genes, probably cotranscribed, of unknown function(s). The GC content of the various parts of the genome indicates that the plasmid is a hybrid structure assembled from DNA from at least three different sources, of which the replication region, the mobilization functions, and the resistance gene are likely to have originated in the enterobacteriaceae.
Base Sequence↗
IS1294, a DNA element that transposes by RC transposition.
IS1294, found on the ColD-like resistance plasmid pUB2380, is IS91-like. It is an active 1.7-kb insertion sequence that lacks terminal inverted repeats, displays insertion-site specificity, and does not generate direct repeats of the target site. The element has one large open reading frame, tnp(1294), encoding a transposase of 351 amino acids, related to members of the REP family of replication proteins used by RC-plasmids of gram-positive bacteria. IS1294 transposes using rolling-circle replication, initiated at one end of the element, oriIS, and terminated at the other, terIS. oriIS and terIS are highly conserved among like IS elements. oriIS resembles the leading strand replication origins of RC-plasmids; terIS resembles a rho-independent transcription terminator. IS1294 mediates not only its own transposition, but also sequences adjacent to terIS. A transposition model for IS1294 and related elements, involving rolling-circle replication and single-strand DNA intermediates, is presented.
Amino Acid Sequence↗
Pulmonary Mycobacterium bovis infection in a dog.
AIM: To describe the clinical course of a dog infected with Mycobacterium bovis causing a granulomatous pneumonia. CLINICAL FINDINGS: The dog initially presented with a persistent cough, inappetence and weight loss. Clinical findings included a fever, dyspnoea and tachypnoea, with haematological evidence of a mild neutrophilia and hypoalbuminaemia. Radiographs of the chest demonstrated a concomitant pneumothorax, pleural effusion, and a consolidated area within the left caudal lung lobe. An exploratory thoracotomy revealed this to be a ruptured granulomatous lesion. Subsequent histopathological, microbiological and genetic studies identified M. bovis as the causal agent. CLINICAL SIGNIFICANCE: Mycobacterium bovis infections should be included in the differential diagnosis of pulmonary disease and pleural effusions in dogs living in regions of New Zealand known to have a high incidence of mycobacterial infection in wildlife and farm animals.
Journal Article↗
Demystified ... microsatellites.
Microsatellite DNA sequences consist of relatively short repeats of one to five base pair units; together with satellites and minisatellites they comprise a larger family known as tandemly repetitive sequences. Microsatellites are found both in prokaryotes and eukaryotes, including humans, wherein they appear scattered almost at random throughout the genome. Although in prokaryotes distinct biological functions have been demonstrated, the role of microsatellites in eukaryotes is less clear. Nevertheless, several interesting hypotheses exist suggesting that certain microsatellites may exert subtle influences on the regulation of gene expression. Although the presence of these subtle mechanisms may be beneficial to a whole population, when they go wrong, as is thought to happen in the case of human trinucleotide repeat associated diseases, such as Huntington's disease, the consequences for the individual can be fatal. Most human microsatellites probably have no biological use at all; however, they are extremely useful in such fields as forensic DNA profiling and genetic linkage analysis, which can be used to search for genes involved in a wide range of disorders. With a primary focus on humans, it is the aim of this review to present an up to date discussion, both of the biological aspects and scientific uses of microsatellite sequences. In the latter case, basic theoretical and technical points will be considered, and as such it may be of use both to laboratory and non-laboratory based readers.
Genetic Markers↗
Learning to care for clients in their world, not mine.
Current literature and trends support the need to incorporate concepts for culturally focused nursing care and experiences with diverse cultures into nursing curricula. The purposes of this qualitative research were to describe the phenomena of being immersed in a different culture and to generate a conceptual map depicting process and outcomes of the immersion experience. From analysis of stories told by practicing nurses (n=9) who had an immersion experience during a baccalaureate program, a dimensional matrix emerged. The core dimension was learning to care. Situational predetermining factors included educational setting, personal characteristics, and demographic factors. Characteristics of the immersion context were site conditions. Transitional factors included strategies for "learning to care" such as social support, coping responses, and openness to adapt communication patterns. Outcomes included personal and professional growth in values, communication, and nursing practice. The matrix can guide nurse educators in incorporating immersion experiences into nursing curricula.
Acculturation↗
HIV exposure risk and management.
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Anesthesiology↗
Urinary catheterisation in cancer: improving quality of life.
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Community Health Nursing↗
A study of five candidate genes in Parkinson's disease and related neurodegenerative disorders. European Study Group on Atypical Parkinsonism.
OBJECTIVE: To determine whether reported genetic association of polymorphisms in the CYP2D6, CYP1A1, N-acetyltransferase 2 (NAT2), DAT1, and glutathione s-transferase M1 (GSTM1) genes with PD were evident in a population of 176 unrelated patients with sporadic PD and to extend these findings to other disease groups (familial PD [n = 30], ALS [n = 50], multiple system atrophy [n = 38], progressive supranuclear palsy [n = 35], and AD [n = 23]). METHODS: A combination of allele-specific PCR and analysis of restriction fragment length polymorphisms were performed. RESULTS: We genotyped 1,131 individuals. After matching each patient with a control subject by age, sex, ethnicity, and geographic origin, there was no association of any allele/genotype with any of the six disease groups. There was an increased frequency of NAT2 slow acetylators in the ALS group compared with controls (70% versus 50%; OR 2.33 [95% CI, 1.03 to 5.30]), but this was not significant after adjusting for multiple testing. CONCLUSIONS: This is one of the most extensive candidate gene studies performed in PD and the first time that some of these loci have been studied in multiple system atrophy and progressive supranuclear palsy. In contrast with previous studies, we found no role for these polymorphisms in the etiology of PD, ALS, multiple system atrophy, progressive supranuclear palsy, or AD.
Aged↗
The tau gene in progressive supranuclear palsy: exclusion of mutations in coding exons and exon 10 splice sites, and identification of a new intronic variant of the disease-associated H1 haplotype in Italian cases.
Mutations in coding exons or exon 10 5'-splice-site of the gene for microtubule-associated protein tau can cause chromosome 17-linked frontotemporal dementia and parkinsonism (FTDP-17). We sequenced the 11 coding exons plus exon-intron boundaries of the tau gene in 15 cases of progressive supranuclear palsy (PSP), and found no mutations in coding exons or exon ten 5'-splice sites. These data indicate that typical PSP is not associated with tau gene mutations similar to those causing FTDP-17. We also observed a +39deltaG base change in the intron following exon 4 in three out of 69 PSP cases (all three Italians), whereas it was not found in 150 Dutch controls and once in 112 Italian controls. The +39deltaG variant arose in the context of the PSP-associated tau H1 haplotype. Although a pathogenic role cannot be entirely excluded, +39deltaG is likely to be a rare polymorphism that may be in linkage disequilibrium with a biologically relevant locus inside or near to the tau gene.
Aged↗
Linkage of a composite inhibitory phenotype to a chromosome 22q locus in eight Utah families.
Eight Utah multigenerational families, each with three to six cases of schizophrenia, were phenotyped with two specific measures of inhibitory neurophysiological functioning, P50 auditory sensory gating (P50), and antisaccade ocular motor performance (AS). A genomewide linkage analysis was performed to screen for loci underlying a qualitative phenotype combining the P50 and AS measures. For this composite inhibitory phenotype, the strongest evidence for linkage was to the D22s315 marker on chromosome 22q (lod score = 3.55, theta = 0) under an autosomal dominant model. Simulation analyses indicate that this 3.55 lod score is unlikely to represent a false positive result. Lod scores were 2.0 or greater for markers flanking D22s315. A nonparametric linkage (NPL) analysis of the chromosome 22 data showed evidence for allele sharing over the broad region surrounding D22s315 with a maximum NPL score of 3.83 (p = .002) for all pedigrees combined.
Acoustic Stimulation↗
Management of stroke in Auckland Hospital in 1996.
AIMS: To review the management of stroke in Auckland Hospital; compare current management with practice in Auckland in 1991/92; and determine how many patients may be suitable for treatment with aspirin or tissue plasminogen activator (t-PA). METHODS: Retrospective review of case notes for all patients over the age of 15 years presenting during four months in 1996 with symptoms and signs of an acute stroke. Subarachnoid haemorrhages were excluded. RESULTS: There were 184 stroke events (135 ischaemic strokes, 26 intracerebral haemorrhages, 23 unspecified strokes) in 179 patients. The time between the onset of symptoms and arrival in hospital was available for 109 patients: the overall median time was three hours, two hours for intracerebral haemorrhages, three hours for ischaemic strokes, four hours for unspecified strokes. Most patients (78%) were admitted to a general medical ward. Only 10% of the patients managed on a non-neurological ward were referred to a neurologist. Computed tomography (CT) was obtained in 88% of the patients. The median time from the onset of symptoms to CT was 19 hours (11 hours for intracerebral haemorrhages, 21 hours for ischaemic strokes). Only 11 patients (10%) were scanned within three hours of the onset of symptoms. Of the 135 patients who had an ischaemic stroke, 36% were treated with aspirin and 6% with heparin in the first 48 hours. Thirty-two patients (17%) died in hospital, 87 (47%) returned home, 37 (20%) were transferred to a rest home or private hospital and 28 (15%) were transferred to other places. CONCLUSIONS: Compared with 1991, the rate of CT scanning after a stroke increased from 42% to 88%. At present, no more than 5% of all patients presenting with a stroke are suitable for consideration of treatment with t-PA. Routine treatment with aspirin in the first 48 hours could be achieved without other major changes in management.
Acute Disease↗