PubMed Health⌕ Search

Biomedical subjects

S Morrison

Publications and source records attributed to S Morrison.

At least 37 records · Page 2Linked to original sources
PubMed2000

Adult with an interstitial deletion of chromosome 10 [del(10)(q25. 1q25.3)]: overlap with Coffin-Lowry syndrome.

We recently evaluated a mentally retarded 48 year old man found to have a cytogenetic deletion of chromosome 10 [46,XY,del(10) (q25. 1q25.3)]. Of interest, he shares many clinical findings with those described in Coffin-Lowry syndrome (CLS). These include severe mental retardation, short stature and a coarse facial appearance with widely spaced eyes, and patulous lips. He also had an extra transverse hypothenar crease, a finding that is seen in CLS. Furthermore, he has characteristic radiographic hand findings described in 95% of patients with CLS. The CLS gene, located at Xp22. 2, has recently been identified, and mutations in the Rsk-2 gene have been identified in several CLS patients. Rsk2 is part of a gene family implicated in cell cycle regulation through the mitogen-activated protein (MAP) kinase cascade. None of the currently recognized components of this pathway maps to the region deleted in our patient, nor are we able to identify any likely candidate genes in the deleted region, although several G protein coupled receptors have been cloned from the region. This patient's findings have some overlap with those seen in CLS, suggesting that a gene involved in MAP kinase signaling may be present in the deleted region of chromosome 10q25.1-25.3. Patients with a phenotype consistent with CLS, but lacking a family history suggestive of an X-linked disorder, should be evaluated with chromosome analysis paying particular attention to the region 10q25.

Abnormalities, Multiple↗
PubMed2000

Postural and resting tremor in the upper limb.

OBJECTIVE: Tremor from multiple segments of the upper limb was recorded under postural and resting conditions. The aims of this study were to examine the nature of tremor within a single limb segment, intra- and inter-limb co-ordination of tremor, and the influence of cardiac mechanical events on physiological tremor. METHODS: Tremor was recorded from eight healthy adult subjects during a postural pointing task where the level of support for the upper limb segments was successively increased. The dynamics of tremor within a single segment were examined using power spectral, ApEn and amplitude analyses. Inter-segment tremor relations were determined using coherence and Cross-correlation analyses. RESULTS: Single segment analysis demonstrated that each (unsupported) limb segment contained two major frequency peaks (at 1-4 Hz and 8-12 Hz). Both peaks were still evident in the distal segments when the proximal segments were supported. External support of the more proximal limb segments also resulted in decreased finger tremor, but these changes were not simply additive over segments within a limb or equal across fingers. There were significant relations between adjacent proximal and distal limb segment pairs but no correlations between contralateral limb segments or between heart rate and limb tremor. CONCLUSIONS: These findings imply that: the low frequency component (1-4 Hz) of physiological tremor in the hand and finger could not be attributed to passive transmission of oscillations from the upper arm and forearm; and the contribution of proximal segments on tremor in the index finger tremor could not be predicted from mechanical principles alone. The minimization of finger tremor involved compensatory coupling of segments of the upper arm with particular emphasis upon active control of the wrist joint.

Acceleration↗
PubMed2000

The measurement properties of fitness measures and health status for persons with spinal cord injuries.

OBJECTIVE: To assess the measurement properties of measures used to evaluate fitness and health status in the spinal cord injury (SCI) population. DESIGN: Inception cohort assessed during standardized exercise protocols at admission, discharge, and 8-week follow-up from a SCI rehabilitation program. SETTING: Urban tertiary care hospital. PATIENTS: One hundred two patients with SCI. RESULTS: Measures at higher levels of physical exertion generally showed higher stability between test and retest. Resting measures, blood lactates, and respiratory exchange ratios were not stable. Heart rate, blood pressure, lactate levels, ventilation rates, and activities of daily living measures did not reflect the construct of aerobic fitness. The use of ratings of perceived exertion to predict heart rate was found to be inaccurate in the SCI population. CONCLUSION: Power output and VO2 at maximal workload, and ratings of perceived exertion at a standard workload demonstrated stability and sensitivity to therapeutic change, indicating acceptable measurement properties for the assessment of aerobic fitness in SCI patients. Some other commonly used measures can be used with less confidence.

Adult↗
PubMed2000

On learning to move randomly.

In 2 experiments, the authors examined whether and to what degree young adults can learn to produce random planar motion of the index finger or fingers. Three different types of information feedback were provided to the participants (N = 8 in each experiment) over up to 5 days of practice across the 2 experiments. The results from both experiments revealed that the participants produced a relatively low level of movement randomness in finger motion and that they did not learn through practice to enhance the stochastic properties of their movement under any feedback conditions. The findings provide further evidence that there are relatively tight constraints on the number of dimensions that are regulating single-limb planar motion and that those constraints are not susceptible to change through typical learning protocols.

Adult↗
PubMed2000

In vivo trafficking and catabolism of IgG1 antibodies with Fc associated carbohydrates of differing structure.

We have now produced mouse-human chimeric IgG1 in wild-type Chinese hamster ovary (CHO) cell lines Pro-5 as well as in the glycosylation mutants Lec 2, Lec 8, and Lec 1. Analysis of the attached carbohydrates shows those present on IgG1-Lec 1 were mannose terminated. Carbohydrate present on IgG1-Lec8 was uniformly biantennary terminating in N-acetylglucosamine. The glycosylation profiles of IgG1-Lec 2 and IgG1-Pro-5 were heterogeneous. Only IgG1-Pro-5 was sialylated with sialic acid present on only a small percentage of the carbohydrate structures. When the in vivo fate of antibodies labeled with (125)I-lactotyramine was determined, it was found that the majority of all of the antibodies, irrespective of the structure of their attached carbohydrate, is catabolized in the skin and muscle. However, the attached carbohydrate structure does influence the amount that is catabolized in the liver and the liver serves as a major site for the catabolism of proteins bearing carbohydrate with the Lec2 (with terminal galactose) or Lec1(with terminal mannose) structure.

Animals↗
PubMed2000

Limb stiffness and postural tremor in the arm.

The relation between limb stiffness and postural tremor in the upper arm was investigated during a pointing task. The task goal was to minimize the amount of motion (tremor) at the index finger under levels of increasing limb stiffness. This study investigated the influence of increasing limb stiffness on the pattern of intra- and interlimb dynamics. The frequency profile of the tremor for all limb segments across all conditions displayed two peaks, one between 2-4 Hz and another between 8-12 Hz. A third, higher frequency component (20-22 Hz) was present in the index finger. Increasing limb stiffness through voluntary co-contraction of antagonistic muscle pairs effectively constrained the segments of the upper limb to increasingly operate as a single biomechanical degree of freedom. Higher levels of limb stiffness typically led to an increase in the frequency and power of the 2-4 and 8-12 Hz peaks. There was also a decrease in the frequency of the 20-22 Hz component of finger tremor. The act of reducing the effective degrees of freedom in joint space through voluntarily stiffening of the upper limbs also resulted in decreased performance as determined by an increase in finger tremor. In the preferred, natural level of limb stiffness, specific intralimb segment relations were observed but there was no significant interlimb coupling. The intralimb segment correlations were characterized by compensatory (out of phase) coupling between the upper arm/forearm and hand/index finger segment pairs of each limb that were organized about the action of the wrist joint. Increasing the degree of limb stiffness led to a decrease in the level of intralimb coupling. The findings suggest that the most efficient mechanism for reducing tremor at the periphery is that of compensatory coupling between relevant intralimb segments with a low level of limb stiffness.

Adult↗
PubMed1999

Clinical and molecular studies of brachydactyly type D.

We report on the clinical manifestations in six affected individuals from a four-generation family that segregates brachydactyly type D (BDD). All affected individuals have either bilateral and symmetric or unilateral first distal phalangeal hypoplasia. Metacarpal-phalangeal profiles show that some affected individuals also have a more generalized involvement of the apical skeleton. However, other than first distal phalangeal hypoplasia, there is no consistent pattern of associated skeletal involvement. Linkage analyses were preformed between the BDD phenotype in this family and six loci known to contain genes involved in apical skeletal patterning. No statistically significant linkage was detected.

Foot Deformities, Congenital↗
PubMed1999

Differential in vivo effects of neurturin and glial cell-line-derived neurotrophic factor.

Glial cell-line derived neurotrophic factor (GDNF) and neurturin (NTN) are structurally homologous, and they seem to produce similar effects in vitro. Tissue distributions of their respective receptors, GFR alpha-1 and GFR alpha-2, reveal overlapping but distinct patterns of expression, which implies that the in vivo actions of GDNF and NTN may be different. In the present study, a direct comparison of the in vivo effects of GDNF and NTN was performed using osmotic minipumps delivering either GDNF or NTN over a 30-day period into rat lateral cerebral ventricles. Amphetamine-induced activity levels were increased in both NTN- and GDNF-treated animals, with higher activity levels achieved by GDNF than NTN. The increase in amphetamine-induced activity levels persisted for 2 weeks and returned to control levels at the end of the third week. NTN-treated rats showed higher dopamine levels in the mediodorsal striatum, relative to the ventrolateral striatum. In contrast, no significant change in the regional distribution of dopamine levels was observed in GDNF treated or control animals. On the other hand, an increase in ventrolateral and mediodorsal striatal dopamine utilization was apparent in GDNF-treated animals, while NTN-treated animals showed increased levels of dopamine utilization only in the ventrolateral striatum. With respect to potential adverse effects, GDNF administration resulted in weight loss and the emergence of allodynia. No weight loss or allodynia was detectable with chronic NTN administration. These results suggest that although GDNF and NTN share structural and functional similarities, they may have differential effects in vivo.

3,4-Dihydroxyphenylacetic Acid↗
PubMed1999

Natural goal-directed movements and the triphasic EMG.

Triphasic electromyographic (EMG) patterns have been described as characteristic of rapid, discrete, uniplanar, goal-directed movements. This experiment examined the effects of Response Type (experimenter- vs. subject-determined), Hand (preferred vs. nonpreferred), and Practice (early vs. late) on performance accuracy, and specific temporal EMG and kinematic measures during a dart throw. EMG was recorded from triceps (main agonist), brachioradialis, and biceps (main antagonist). The number of trials in which a triphasic EMG occurred varied systematically across conditions. The experimenter-determined, early practice condition resulted in greatest frequency (92%) of trials displaying a triphasic EMG and least accurate performance. In contrast, the lowest frequency (79%) of triphasic EMG and most accurate performance occurred in the subject-determined, late practice condition. The association among 14 temporal EMG, and kinematic measures for each trial of the dart throw was analyzed with multivariate factorial ANOVA. Four clusters of variables emerged: initial phase, braking phase, terminal phase, and movement speed and duration. Variables contributing to the initial-phase cluster were most strongly associated within the experimenter-determined, early practice condition, and the strength of association was directly related to diminished performance accuracy. Paradoxically, best performance accuracy (subject-determined, late practice) was identified with a weaker association among variables representing the initial phase.

Adult↗
PubMed1999

Fatal carnitine palmitoyltransferase II deficiency in a newborn: new phenotypic features.

We describe the term male infant of asymptomatic, healthy nonconsanguineous parents presenting on the first day of life with nonketotic hypoglycemia, seizures, hepatomegaly, cardiomegaly with biventricular hypertrophy, and ventricular arrhythmias. Cranial ultrasound revealed cystic dysplasia with several foci of hyperechogenicity within the right basal ganglia. Free carnitine was markedly decreased in the urine and plasma with a pronounced elevation of plasma long-chain acylcarnitines. Fibroblast carnitine palmitoyltransferase II activity was reduced to 26% and 38% in the father and mother, respectively. The infant expired on day 5 of life from malignant ventricular tachy-arrhythmias. Diffuse lipid accumulation was evident at autopsy, including in the liver, heart, kidney, adrenal cortex, skeletal muscle, and lungs. This new case of infantile CPT-II deficiency illustrates the severity of the early onset form of CPT-II deficiency.

Abnormalities, Multiple↗
PubMed1998

Noncontact dipole effects on channel permeation. I. Experiments with (5F-indole)Trp13 gramicidin A channels.

Gramicidin A (gA), with four Trp residues per monomer, has an increased conductance compared to its Phe replacement analogs. When the dipole moment of the Trp13 side chain is increased by fluorination at indole position 5 (FgA), the conductance is expected to increase further. gA and FgA conductances to Na+, K+, and H+ were measured in planar diphytanoylphosphatidylcholine (DPhPC) or glycerylmonoolein (GMO) bilayers. In DPhPC bilayers, Na+ and K+ conductances increased upon fluorination, whereas in GMO they decreased. The low ratio in the monoglyceride bilayer was not reversed in GMO-ether bilayers, solvent-inflated or -deflated bilayers, or variable fatty acid chain monoglyceride bilayers. In both GMO and DPhPC bilayers, fluorination decreased conductance to H+ but increased conductance in the mixed solution, 1 M KCl at pH 2.0, where K+ dominates conduction. Eadie-Hofstee plot slopes suggest similar destabilization of K+ binding in both lipids. Channel lifetimes were not affected by fluorination in either lipid. These observations indicate that fluorination does not change the rotameric conformation of the side chain. The expected difference in the rate-limiting step for transport through channels in the two bilayers qualitatively explains all of the above trends.

Biophysical Phenomena↗
PubMed1998

Venous thromboembolism in trauma patients: standardized risk factors.

PURPOSE: This study was done to evaluate the use of published standardized risk factors for venous thromboembolism (VTE) in patients admitted to a trauma intensive care unit (ICU) and to derive guidelines for the use of low molecular weight heparin (LMWH) and surveillance venous Doppler ultrasound scanning (VDUS). METHODS: Patients were admitted to a regional trauma center ICU. Two periods were studied. Period 1 was a retrospective analysis of documented cases of VTE in the trauma registry from 1993 to 1995 (n=39). The period was also a review of all patients admitted to a trauma ICU in 1994 without VTE who met the following criteria: age greater than 11 years, ICU stay of more than 36 hours, and survival of more than 72 hours (n=227). Period 2 was a concurrent analysis of 1996 documented cases of VTE and similarly selected ICU admissions (VTE, n=10; no VTE, n=224). Risk factor scores (R1, admitting; R2, total) were calculated from the International Society for Cardiovascular Surgery/Society for Vascular Surgery reporting standards. The scores were cumulative by category and over time. The suitability of such standards was determined in period 1. The resulting therapeutic and surveillance guidelines were evaluated in period 2. RESULTS: Period 1 risk factor scores, R1 and R2, were correlated with the occurrence of VTE from chi2 test (P < .05 and P < .01, respectively). Risk categories were grouped as low, moderate, and high. VTE was not observed in the low-risk group (0 to 2). Among all VTE (n=49), 11 cases occurred in patients with moderate-risk scores and 38 in patients with high-risk scores. In 1994 and 1996, the selected groups were analyzed and the incidence rate of VTE was 4.7% in both years for the moderate-risk group and 2.5% and 4.8% for the high-risk group, respectively. Most VTE cases (78%) received some form of prophylaxis (PRx), and 26% of cases had multiple methods of prophylaxis (MPRx). This included 80% of the cases that received unfractionated heparin. In period 2, no pulmonary emboli (PE) occurred, in contrast to period 1, in which 16 of 39 cases of VTE (41%) were first seen with PE. In period 2, no patient receiving MPRx, including compression and LMWH, had VTE develop. Surveillance VDUS discovered 60% of 1996 cases in period 2. No PE were seen in period 2. CONCLUSION: Standard risk factors were easily applied to the trauma patient at the bedside. Patients at low risk needed no PRx. Patients at high risk did best with both compression devices and LMWH. VDUS was recommended selectively in patients at high risk in whom multiple-method PRx could not be achieved. Patients at moderate risk required further study to define optimal PRx and need for surveillance VDUS. Intracaval devices were used prophylactically only twice.

Adolescent↗
PubMed1998

Deposition of genetically engineered human antibodies into the egg yolk of hens.

To determine if human immunoglobulins (hIg) are capable of being transported into the hen's egg, 10 microg each of purified hIgG and hIgA were intravenously injected into SC Hyline(TM) hens and their presence in egg yolk and egg white was determined by ELISA. In both cases deposition into the egg yolk was observed and in the case of hIgA, deposition was also observed in the egg white. Two stably transfected DT40 cell lines secreting recombinant human IgG3 and IgA (rhIgG3 and rhIgA) were injected into laying hens. The DT40 cells colonized the host and rhIgG3 and rhIgA were deposited in egg yolk. Deposition of rhIgA was also observed in the egg white. These data demonstrate that human immunoglobulins and other foreign proteins may be targeted to the chicken's egg. In view of the high rate of reproduction, the short generation interval, the high rates of egg production and the extensive infrastructure to fractionate egg yolk proteins, it should be possible to produce large amounts of foreign protein in the eggs of transgenic chickens.

Animals↗
PubMed1997

Clinical and locus heterogeneity in brachydactyly type C.

Brachydactyly type C is characterized by shortness of the second and fifth middle phalanges and the first metacarpal. It is inherited as an autosomal dominant trait, and is noted for its widely variable clinical phenotype both within and between families. In most families involvement is limited to the hands. However, in some families additional skeletal and non-skeletal findings have been reported. We report on 12 affected members from a 5 generation kindred that segregates a brachydactyly type C phenotype. All affected individuals had shortness principally affecting the second and fifth phalanges and first metacarpal. However, the metacarpal-phalangeal profile indicated that other digital elements were short as well. In addition, one affected individual had a bilateral Madelung deformity, but none had foot involvement. No other non-skeletal findings cosegregated with brachydactyly in this family. Recently, a gene for brachydactyly type C has been localized to 12q24. This was done by studying a large kindred first reported by Haws [1963], which manifests both hand and foot anomalies. Here we present linkage data which excludes the 12q24 locus in our kindred, indicating locus heterogeneity as one explanation for the interfamilial variability described in brachydactyly type C.

Adolescent↗
PubMed1997

Effect of centrally administered endothelin agonists on systemic and regional blood circulation in the rat: role of sympathetic nervous system.

The aims of the present study were to determine (1) the hypotensive and regional circulatory effects of centrally administered endothelin (ET) ETA and ETB agonists, and (2) the role of the sympathetic nervous system in the mediation of hypotensive effects due to centrally administered ET-1. The systemic haemodynamics and regional blood circulation in urethane anaesthetized rats following intracerebroventricular (i.c.v.) administration of ET-1, ET-2, SRT6b, ET-3 and SRT6c (10, 30 and 90 ng) were determined by a radioactive microsphere technique. The effect of centrally administered ET-1 on sympathetic nerve activity was also analysed. Systemic haemodynamics and regional blood circulation were determined before (baseline) and 30 min after administration of ET agonists. Cumulative administration of three doses of saline (5 microliters, i.c.v. at 30 min intervals) did not produce any significant cardiovascular effects. ET-1, ET-2 and SRT6b produced a decrease in blood pressure (51%, 47% and 41%, respectively) along with a decrease in cardiac output (58%, 60% and 45%, respectively) and stroke volume. Heart rate and total peripheral resistance were not affected. ET-1, ET-2 and SRT6b also produced a significant reduction in blood flow to the brain, kidneys, heart, portal, mesentery and pancreas, gastrointestinal tract (GIT) and musculoskeletal system. The effect of ET-2 on the cardiovascular system was less intense in comparison with ET-1 and SRT6b. Centrally administered specific ETB receptor agonists ET-3 and SRT6c did not produce any change in systemic haemodynamics and regional blood flow. Centrally administered ET-1 (90 ng) produced a significant decrease (61%) in sympathetic nerve activity 30 min after drug administration, along with a fall in blood pressure. It is concluded that centrally administered ETA agonists produce significant cardiovascular effects mediating through the sympathetic nervous system.

Animals↗
PubMed1997

Effect of ETA receptor antagonists on cardiovascular responses induced by centrally administered sarafotoxin 6b: role of sympathetic nervous system.

The present study was carried out to investigate the cardiovascular effects of centrally administered SRT6b in saline, BQ123 and BMS182874 pretreated male Sprague-Dawley rats, using a radioactive microsphere technique. SRT6b (100 ng, ICV) produced a transient increase (40%) in blood pressure at 5 min followed by a sustained decrease (-42%) at 30 and 60 min in control rats. Total peripheral resistance and heart rate were not significantly altered. Cardiac output increased (16%) at 5 min and decreased 30 and 60 min following SRT6b administration. Central venous pressure was not affected by SRT6b. Regional blood flow and vascular resistance did not change at 5 min following administration of SRT6b. However, a significant decrease in blood flow to the brain, heart, kidneys, liver, spleen, gastrointestinal tract and mesentery and pancreas was observed 30 and 60 min following administration of SRT6b in control (saline treated) rats. Pretreatment with ETA selective receptor antagonists, BQ123 (10 micrograms, ICV) or BMS182874 (50 micrograms, ICV) significantly attenuated the pressor and depressor effects of centrally administered SRT6b. SRT6b induced decrease in blood flow was completely blocked by pretreatment with BQ123 or BMS182874. ET-1 (100 ng, ICV) produced an increase followed by a decrease similar to SRT6b. Reserpine (5 mg/kg, IP) pretreatment attenuated the cardiovascular effects of ET-1. Role of sympathetic nervous system was determined by measuring splanchnic nerve activity. SRT6b when administered in the lateral cerebral ventricle did not produce any significant effect at 5 min, however, a significant decrease in sympathetic nerve activity was observed 30 min after its administration. It is concluded that centrally administered SRT6b produces significant changes in systematic and regional blood circulation which can be completely blocked by ETA receptor antagonist. The cardiovascular effects of centrally administered SRT6b appear to be mediated through the sympathetic nervous system.

Animals↗