A patient with a supernumerary marker chromosome (15), Angelman syndrome, and uniparental disomy resulting from paternal meiosis II non-disjunction.
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Biomedical subjects
Publications and source records attributed to S Price.
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OBJECTIVE: This report aims to study the prevalence of features of laryngeal muscle tension in a population of patients with functional dysphonia (FD) and nondysphonic control subjects. STUDY DESIGN: Prospective control-blinded, cross-sectional study. METHODS: We reported on a prospective control-blinded, cross-sectional study of the prevalence of the six features described by Van Lawrence and the six features incorporated in the Morrison-Rammage classification. A senior laryngologist and senior speech pathologist independently rated sound-free, random-sequence video laryngoscopies of 51 patients with FD and 52 nondysphonic control subjects. Assessments were made of the presence or absence of the 12 laryngoscopic features of laryngeal dysfunction, and an overall rating made of the vocal technique as "normal" or "abnormal." RESULTS: More than 60% of the control population demonstrated 1 or more of the 12 features of hyperfunction. There was no significant difference in the prevalence of the six Van Lawrence features, the six Morrison-Rammage features, or the total number of abnormal features between patients with FD and control subjects. On overall assessment, both assessors noted a high prevalence (50% and 36%, respectively) of abnormal vocal technique in the control population. There was no statistical difference in the total number of abnormal features observed between patients with FD and control subjects. Positive predictive value calculations showed that the presence of a clinical feature, at best, presented a 75% chance of correctly identifying a patient with FD and, at worst, a 50% chance. CONCLUSION: The laryngoscopy features commonly associated with FD are frequently prevalent in the nondysphonic population and fail to distinguish patients with FD from normal subjects.
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This randomized trial compared a strategy of direct stenting without predilatation (n = 39) with conventional stenting with predilatation (n = 42) in patients with suitable lesions in native vessels > or = 2. 5-mm diameter to be covered by either a 9- or 16-mm-length NIR Primo stent. Equipment cost [mean (median) +/- SD] was less in those with direct stenting [$1,199 (979) +/- 526] than in those with predilatation [$1,455 (1,285) +/- 401, P < 0.001]. There was no significant difference in contrast use or fluoroscopy time. Procedural time was shorter in the direct stenting group. The clinical outcome at 1 month was satisfactory in both groups. In selected patients, a strategy of direct stenting is feasible, costs less, and is quicker to perform than the conventional strategy of stenting following predilatation.
The aim of this research was to compare the effects of tailored or general nutrition messages on individuals' food knowledge, food consumption, and fiber intake. Past research in the area of food choice has applied the Theory of Reasoned Action or the Theory of Planned Behavior to identify the determinants of choice. Neither theory, however, is structured to allow the researcher to examine a person's attitudes toward a wide range of foods and then to specify which food(s) from among the set of foods to include in a nutrition message. In contrast, the Behavioral Alternatives Model (BAM) allows the researcher to examine attitudes toward behavioral alternatives (i.e. foods) and to identify which foods are most likely to be selected from among a set of foods. We used the BAM to specify the foods to include in a tailored nutrition message. The results indicated that respondents who received a tailored message derived from the BAM had more food-related knowledge and dietary changes in the recommended direction than the respondents who received a general message.
We studied whether a short course of granulocyte colony-stimulating factor (G-CSF) administered to normal donors immediately before bone marrow (BM) harvest would shorten time to neutrophil and platelet engraftment in matched related allogeneic BM recipients. Twenty-nine normal donors received 4 consecutive daily subcutaneous injections of G-CSF (median dose, 12.1 microg/kg per day; range, 9.6-15.7 microg/kg per day) immediately before BM harvest. Donors tolerated G-CSF well, with only mild myalgias and arthralgias, and BM was easy to aspirate. The BM harvest contained a median of 5.3 x 10(8) white blood cells (WBCs)/kg (range, 3.1-11.1 x 10(8) WBCs/kg) and 2.5 x 10(6) CD34+ cells per kg (range, 1.5-7.3 x 10(6) CD34+ cells per kg). Median times to neutrophil (18 days [range, 11-30 days] versus 22 days [range, 16-36 days]; P = .05) and platelet (22 days [range, 15-55 days] versus 27 days [range, 18-46 days]; P = .04) engraftment were statistically shorter than those of historical control subjects whose donors had not received G-CSF before BM harvest. However, secondary engraftment-dependent outcomes including red blood cell and platelet transfusions, febrile days, days on antibiotics, days from transplant to hospital discharge, and days in hospital during the first 60 days after transplant were not statistically different from historical control subjects. We conclude that G-CSF administered to normal donors immediately before harvest facilitates BM aspiration, increases the WBC content of the harvest, and hastens neutrophil and platelet engraftment compared with historical control subjects.
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Studies were performed to determine the significance of temporal variation in vascular smooth muscle Ca(2+) signaling during acute arteriolar myogenic constriction and, in particular, the importance of the stretch-induced intracellular Ca(2+) concentration ([Ca(2+)](i)) transient in attaining a steady-state mechanical response. Rat cremaster arterioles (diameter approximately 100 microm) were dissected from surrounding tissues, and vessel segments were pressurized in the absence of intraluminal flow. For [Ca(2+)](i) measurements, vessels were loaded with fura 2 and fluorescence emitted by excitation at 340 and 380 nm was measured using video-based image analysis. Ca(2+) and diameter responses were examined after increases in intravascular pressure were applied as an acute step increase or a ramp function. Additional studies examined the effect of longitudinal vessel stretch on [Ca(2+)](i) and arteriolar diameter. Step increase in intraluminal pressure (from 50 to 120 mmHg) caused biphasic change in [Ca(2+)](i) and diameter. [Ca(2+)](i) transiently increased to 114.0 +/- 2.0% of basal levels and subsequently declined to 106.7 +/- 4.4% at steady state. Diameter initially distended to 125.4 +/- 2.1% of basal levels before constricting to 71.1 +/- 1.2%. In contrast, when the same pressure increase was applied as a ramp function (over 5 min) transient vessel distension and transient increase in [Ca(2+)](i) were prevented, yet at steady state vessels constricted to 71.3 +/- 2.5%. Longitudinal stretch resulted in a large [Ca(2+)](i) transient (158 +/- 19% of basal) that returned to baseline despite maintenance of the stretch stimulus. The data demonstrate that the initial vessel distension (reflecting myocyte stretch) and associated global [Ca(2+)](i) transient are not obligatory for myogenic contraction. Thus, although arteriolar smooth muscle cells are responsive to acute stretch, the resulting changes in myogenic tone may be more closely related to other mechanical variables such as wall tension.
OBJECTIVES: Assess query expansion using thesaurus relationships and definitions in the UMLS Metathesaurus for improving searching performance. METHODS: The queries from a MEDLINE test collection (OHSUMED) were expanded using synonym, hierarchical, and related term information as well as term definitions from the UMLS Metathesaurus. Documents were retrieved from a word-statistical retrieval system and assessed for recall and precision based on relevance judgments from the test collection. RESULTS: All types of query expansion degraded aggregate retrieval performance as measured by recall and precision, although 38.6% of the queries with synonym expansion and up to 29.7% of the queries with hierarchical expansion showed improvement. CONCLUSIONS: Thesaurus-based query expansion causes a decline in retrieval performance generally but improves it in specific instances. Further research must focus on identifying instances where performance improves and how it can be exploited by real users.
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Interferometric RADARSAT data are used to map ice motion in the source areas of four West Antarctic ice streams. The data reveal that tributaries, coincident with subglacial valleys, provide a spatially extensive transition between slow inland flow and rapid ice stream flow and that adjacent ice streams draw from shared source regions. Two tributaries flow into the stagnant ice stream C, creating an extensive region that is thickening at an average rate of 0.49 meters per year. This is one of the largest rates of thickening ever reported in Antarctica.
Erythropoietin (Epo), a glycoprotein hormone produced principally in the fetal kidney and in the adult liver in response to hypoxia, is the prime regulator of growth and differentiation in erythroid progenitor cells. The regulation of Epo gene expression is not fully understood, but two mechanisms have been proposed. One involves the participation of a heme protein capable of reversible oxygenation and the other depends on the intracellular concentration of reactive oxygen species (ROS), assumed to be a function of pO2. We have investigated the production of Epo in response to three stimuli, hypoxia, cobalt chloride, and the iron chelator desferrioxamine, in Hep3B cells. As expected, hypoxia caused a marked rise in Epo production. When the cells were exposed to the paired stimuli of hypoxia and cobalt no further increase was found. In contrast, chelation of iron under hypoxic conditions markedly enhanced Epo production, suggesting that the two stimuli act by separate pathways. The addition of carbon monoxide inhibited hypoxia-induced Epo production, independent of desferrioxamine concentration. Taken together these data support the concept that pO2 and ROS are sensed independently.
The knowledge, skills and attitudes which institutions expected of applicants for pre-registration Diploma programmes in children's nursing were investigated. Criteria were derived through an examination of nursing literature related to activities undertaken to meet the needs of children, when they are ill. Specific qualities, such as observational, psychomotor and interpersonal skills, combined with a desire to work with children and their families, were considered as being important in the selection of potential children's nurses. These criteria were compared with the expectations of those involved in the selection of students for children's nursing. Surprisingly, psychomotor skills were not mentioned by respondents and only around one-third of institutions clearly stated that they expected some understanding of children and their families. There was no mention of observational skills. These data supported the notion that there are a number of inherent qualities which selectors might look for in candidates; however, not all respondents have the same expectations of their candidates for the Child Branch. This raises the question of whether those offering programmes which leads to a qualification, acceptable throughout the UK, should be encouraged to work towards greater agreement on the qualities of those suitable to be taken into education as a children's nurse.
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The motor thalamic areas receiving input from the globus pallidus (VA) and the cerebellar nuclei (VL) appear to have different roles in the generation and guidance of movements. In order to further test these differences, we used electrical stimulation to map the ventro-anterior and ventro-lateral nuclei of the thalamus in three ketamine anaesthetised monkeys. Movements were readily evoked from VL at currents of down to 10 microA. The movements were typically multijoint, and stimulation could evoke arm and trunk or arm and facial movement at the same current threshold. Evoked arm movements often involved multiple joints, with or without finger movements. Facial movements included the lips, tongue, jaw, eyebrows and, occasionally, the eyes. The thalamic map was topographic, but complex with at least two separate regions related to arm movement. Very few sites within the VA could stimulate movement, even at high currents. We therefore suggest that the cerebellar projections to motor regions of the cortex, which pass through the VL thalamic nuclei, have a different relationship and are closer to movement execution than the projections from basal ganglia via the ventro-anterior nucleus.
As the use of aromatherapy within a health care setting has grown so rapidly in recent years, and will continue to do so, the need for suitable training has become apparent. No health service can afford the risk of having staff who are inadequately trained in the practice of aromatherapy using essential oils incorrectly on those in a state of ill-health, especially if the essential oils used are not to a standard suitable for therapeutic use. Training to an acceptable level in aromatic therapy is essential for safety and effectiveness. Knowledge of the nature and make-up of essential oils, their effect on the body and the emotions, and how, when, and where to apply them is imperative in order for them to be beneficial to a patient's health. Contraindications to certain oils, patients, or treatment have also to be thoroughly understood, and the dosage employed is related to some extent to the standard of training undertaken.