Oromandibular-limb hypogenesis spectrum and maternal lithium use.
A female is described with oromandibular-limb hypogenesis spectrum. The mother had taken lithium during the pregnancy.
Abnormalities, Drug-Induced↗
Biomedical subjects
J Ellison
Publications and source records attributed to J Ellison.
Thrombocytopenia and leucopenia precipitated by pregnancy in a woman with myasthenia gravis.
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Adult↗
Antenatal use of enoxaparin for prevention and treatment of thromboembolism in pregnancy.
OBJECTIVE: To assess the safety and efficacy of enoxaparin use for thromboprophylaxis or treatment of venous thromboembolism during pregnancy. DESIGN: Retrospective review of casenotes of women who received enoxaparin during pregnancy. SETTING: Obstetric Medicine Unit at Glasgow Royal Maternity Hospital. SAMPLE: Data were obtained on 57 pregnancies in 50 women over six years. METHODS: Information was obtained from case records in relation to outcome measures, the presence of underlying thrombophilia and indication for anticoagulation. MAIN OUTCOME MEASURES: Incidences of venous thromboembolism, haemorrhage, thrombocytopenia, peak plasma anti-factor Xa levels and symptomatic osteoporosis. RESULTS: There were no thromboembolic events in the thromboprophylaxis group. There were no incidences of heparin-induced thrombocytopenia. Twenty-two women had spinal or epidural anaesthesia and no complications were encountered. There was one instance of antepartum haemorrhage following attempted amniotomy in a woman with previously unknown vasa praevia. Two women sustained postpartum haemorrhage, both secondary to vaginal lacerations, resulting in blood loss > 1,000 mL. Blood loss following caesarean section was not excessive. No instances of vertebral or hip fracture were encountered. The median peak plasma anti-factor Xa level on a dose of 40 mg once daily was 0.235 U/mL; peak plasma anti-factor Xa levels were not affected by gestational age. CONCLUSIONS: The use of enoxaparin in pregnancy is associated with a low incidence of complications and a dose of 40 mg once daily throughout pregnancy provides satisfactory anti-factor Xa levels and appears effective in preventing venous thromboembolism.
Adolescent↗
Prothrombin 20210 G-->A, MTHFR C677T mutations in women with venous thromboembolism associated with pregnancy.
Over 50 unselected women with maternal venous thromboembolism were screened for the prothrombin 20210 G-->A and MTHFR C677T mutations, in addition to screening for other thrombophilias. The prevalence of thrombophilia in these women was compared with its prevalence in the general population in our area. The prothrombin (OR 4.4; 95% CI 1.2-16) and factor V Leiden (OR 4.5; 95% CI 2.1-14.5) mutations were more common in our patients, compared with the general population, whereas women homozygous for the C677T mutation in the methylene tetrahydrofolate reductase gene (OR 0.45; 95% CI 0.13-1.58) were not. It is recommended that women with a personal or strong family history of venous thromboembolism should be screened for the prothrombin mutation either before or early in pregnancy, in addition to screening for other thrombophilias. Screening for the MTHFR mutation does not appear to identify women at increased risk of maternal venous thrombosis.
Cohort Studies↗
Spit (smokeless) tobacco use by high school baseball athletes in California.
OBJECTIVE: To describe the prevalence, patterns, and correlates of spit (smokeless) tobacco (ST) use in a sample of high school baseball athletes in California. DESIGN: This cross sectional study was a survey of 1226 baseball athletes attending 39 California high schools that were randomly selected from a list of all publicly supported high schools with baseball teams. At a baseball team meeting, athletes who agreed to participate and had parental consent completed the study questionnaire. To enhance the accuracy of self reported ST use status, a saliva sample was collected from each subject. The questionnaires and saliva samples were coded and salivary cotinine assay was performed on a random subsample of 5% of non-users who also were non-smokers. Biochemical assay indicated that 2% tested positive for cotinine inconsistent with self reported ST non-use. RESULTS: Overall, 46% had ever used ST and 15% were current users. Odds ratios and 95% confidence intervals (CI) suggested that, among high school baseball athletes, age, living in a rural area, being white, smoking cigarettes, drinking alcohol, not knowing about the adverse effects of ST, perceiving little personal risk associated with ST use, and believing that friends, role models, teammates, and same age baseball athletes in general used ST, increased the likelihood of being an ST user. CONCLUSION: The findings indicate that considerable experimentation with ST products occurs among high school baseball athletes in California, and many are current users. ST interventions targeting this population are needed to stop the transition from experimental ST use to tobacco dependence. Correlates of ST use for consideration in future intervention studies are identified.
Adolescent↗
Lipoprotein (a), cholesterol and triglycerides in women with venous thromboembolism.
Plasma concentrations of lipoprotein (a), total cholesterol, high-density lipoprotein (HDL)-cholesterol, low-density lipoprotein (LDL)-cholesterol and triglyceride were measured in 62 women who had suffered an episode of objectively confirmed venous thromboembolism (VTE) at < or = 50 years of age, and in 98 age-matched female controls. The mean body mass index (BMI) of cases was significantly (P < 0.001) higher than that of controls. Plasma triglyceride was significantly higher, and total cholesterol/LDL- and HDL-cholesterol significantly lower, in cases compared with controls. After adjustment for BMI, the plasma total cholesterol and LDL-cholesterol remained significantly lower in cases. No significant differences in mean plasma lipoprotein (a) levels were identified between cases and controls. Lipoprotein (a) does not appear to be significantly associated with the development of VTE in young women. The increased risk of VTE in obese subjects may be mediated, at least in part, via hypertriglyceridaemia, which has previously been demonstrated to have effects on levels of coagulation factors, natural anticoagulants, and plasminogen activator inhibitor type 1.
Adult↗
Deletion of the pseudoautosomal region in a male with a unique Y;13 translocation and short stature.
Short stature is a common finding in patients with Ullrich-Turner syndrome. Structural abnormalities involving the terminal short arms of the X and Y chromosomes have been shown to lead to short stature. A putative locus affecting height called PHOG/SHOX has been localized to a 170-kb critical region within the pseudoautosomal region (PAR). It contains a homeodomain and functions as a transcription factor. We have studied a 10-year-old boy with idiopathic short stature who was found to have a unique Y;13 translocation. Southern blot analysis using cDNA probes indicated that most of the PAR, including PHOG/SHOX, was lost as a result of this translocation. We conclude that haploinsufficiency for this gene is responsible for the growth failure in our patient. Treatment with recombinant growth hormone has resulted in greatly improved growth velocity.
Body Height↗
HELLP syndrome: mechanisms and management.
Effective management of HELLP syndrome depends on swift recognition of a condition which often masquerades as other pathology. This article reviews clinical aspects of HELLP syndrome and outlines recent advances in our comprehension of what may be the underlying pathophysiology.
Adolescent↗
Long-term prospects for horses with grass sickness (dysautonomia).
Responses to questionnaires were received from 31 owners of horses or ponies treated for chronic grass sickness (dysautonomia). Contrary to previous opinions the respondents indicated that the majority of the animals were capable of strenuous work, had regained the weight they had lost and, apart from a few residual problems such as difficulty in coping with dry fibrous food, had returned to a normal life. They had recovered slowly and had involved the owners in considerable extra work, but all the owners indicated that they considered the effort to have been worthwhile.
Animals↗
Klinefelter's syndrome as a model of anomalous cerebral laterality: testing gene dosage in the X chromosome pseudoautosomal region using a DNA microarray.
Consistent handedness and language laterality are two of the most striking behavioral and cognitive asymmetries observed in humans. Alterations in the typical pattern of cerebral laterality, termed "anomalous dominance," is observed in left-handers and some patients with verbal learning disabilities. We undertook the study of a genetically distinct group of subjects, XXY males (Klinefelter's syndrome; KS), who demonstrate anomalous dominance in a variety of testing paradigms in order to begin to elucidate the molecular basis of anomalous dominance in this population. KS subjects manifest specific verbal learning disability, evidence of altered functional laterality for phonologic processing, and an increase in left-handedness when measured by skill. It is proposed that an alteration in gene dosage in the pseudoautosomal region (PAR) of the sex chromosomes is the most likely explanation for anomalous dominance in these patients. This is especially intriguing in light of previously described genetic models of cerebral laterality that suggest a contributing locus in the PAR, or adjacent high homology regions of the X chromosome. We have developed an ordered DNA microarray covering the X chromosome PAR at high resolution for hybridization with two-color fluorescently labeled probes. We demonstrate the ability to detect changes in hybridization signal that will facilitate efficient large-scale screening of this region for alterations in gene dosage associated with features of anomalous dominance and other cognitive or behavioral phenotypes.
Case-Control Studies↗
Cloning and tissue expression of the mouse ortholog of AIM1, a betagamma-crystallin superfamily member.
We report the isolation of the murine ortholog of AIM1, a human gene whose expression is associated with the reversal of tumorigenicity in an experimental model of melanoma. Mouse and human AIM1 are more than 90% identical in amino acid sequence in the betagamma-crystallin repeats and the C-terminal domain, and more than 75% identical in the extended N-terminal domain. Consistent with the isolated cDNA representing the authentic AIM1 ortholog, linkage analysis localized mouse Aim1 to proximal mouse Chromosome (Chr) 10 in a conserved linkage group with genes localized to human Chr band 6q21. Searches of EST databases identified a second AIM1-like gene in both mouse and human, suggesting the existence of a gene family. Northern analysis demonstrates Aim1 is expressed most abundantly in adult skin, lung, heart, liver, and kidney and is temporally regulated during embryogenesis. Aim1 is expressed highly in the shaft region of the hair follicles and the presumptive ectoderm, but not at detectable levels in melanocytes or melanocyte precursor cells.
Amino Acid Sequence↗
Effects of endothelin receptor antagonism and angiotensin-converting enzyme inhibition on cardiac and renal remodeling in the rat.
The effects of a nonpeptide, orally active mixed endothelin (ET) ETA/ETB receptor antagonist, SB 217242, and an angiotensin-converting enzyme (ACE) inhibitor, ramipril, were evaluated after inter-renal aortic banding in the rat. Separate sham, vehicle, and treatment groups were compared in each study. In vehicle-treated animals in the ramipril group, aortic banding for 4 weeks produced significant cardiac hypertrophy (247 +/- 5 mg/100 g bw vs. 305 +/- 11 mg/100 g bw; p < 0.001), right (upstream) renal hypertrophy (380 +/- 6 mg/100 g bw vs. 559 +/- 28 mg/100 g bw; p < 0.001), and significant left (downstream) renal atrophy (405 +/- 4 mg/100 g bw vs. 192 +/- 25 mg/100 g bw; p < 0.001). Continuous ramipril treatment (1 mg/kg p.o. once daily), begun 3 days before aortic banding, inhibited cardiac hypertrophy (305 +/- 11 mg/100 g bw vs. 266 +/- 7 mg/100 g bw; p < 0.05) but did not alter renal hypertrophy or atrophy. In a similarly designed study, SB 217242 (30 mg/kg p.o. b.i.d.) had no effect on the development of cardiac hypertrophy (298 +/- 7 mg/100 g bw vs. 310 +/- 12 mg/100 g bw) or renal hypertrophy (561 +/- 15 mg/100 g bw vs. 575 +/- 19 mg/100 g bw), but abolished the development of renal atrophy (158 +/- 16 mg/100 g bw vs. 395 +/- 19 mg/100 g bw; p < 0.001). [125I]ET-1 radioligand binding experiments indicated that the density of both ETA and ETB receptors was increased dramatically (three- to fourfold) in the atrophic kidney cortex compared to sham or hypertrophic kidneys. In situ hybridization studies indicate an upregulation of ETB receptor mRNA in the glomeruli of atrophic kidneys within 5 days of aortic banding. In conclusion, an angiotensin-dependent mechanism may mediate cardiac hypertrophy associated with aortic banding, whereas ET-dependent mechanisms may mediate an atrophic response in the hypoperfused kidney, perhaps through an interaction with upregulated ETA and/or ETB receptors.
Angiotensin-Converting Enzyme Inhibitors↗
Total and respirable airborne dust endotoxin concentrations in three equine management systems.
The concentrations of total and respirable airborne endotoxin in the breathing zone of a pony in 3 different management systems, on 8 occasions, are reported. Airborne endotoxin concentrations in all 3 systems were lower than those reported for many other agricultural environments. However, total airborne endotoxin concentrations in many of the conventional stables exceeded those which can induce pulmonary inflammation and bronchial hyper-responsiveness in normal human subjects, and exceeded those which can induce bronchoconstriction in humans with pre-existing pulmonary inflammation. Therefore, airborne endotoxin may contribute to the development of airway inflammation and dysfunction in conventionally stabled horses. Potentially detrimental effects of airborne endotoxins on the welfare and exercise performance of stabled horses can be reduced by maintaining horses in 'low dust' stables or at pasture, since these environments had significantly lower airborne dust and endotoxin concentrations.
Air Pollution↗
Ischemic preconditioning and brain tolerance: temporal histological and functional outcomes, protein synthesis requirement, and interleukin-1 receptor antagonist and early gene expression.
BACKGROUND AND PURPOSE: A short duration of ischemia (ie, ischemic preconditioning [PC]) can provide significant brain protection to subsequent ischemic events (ie, ischemic tolerance [IT]). The present series of studies was conducted to characterize the temporal pattern of a PC paradigm, to systematically evaluate the importance of protein synthesis in PC-induced IT, and to explore candidate gene expression changes associated with IT. METHODS: Temporary middle cerebral artery occlusion (MCAO) (10 minutes) was used for PC. Various periods of reperfusion (ie, 2, 6, and 12 hours and 1, 2, 7, 14, and 21 days) were allowed after PC and before permanent MCAO (PMCAO) (n=7 to 9 per group) to establish IT compared with non-PC (sham-operated) rats (n=22). Infarct size, forelimb and hindlimb motor function, and cortical perfusion (laser-Doppler flowmetry; n=9 per group) were measured after PMCAO. The effects of the protein synthesis inhibitor cycloheximide administered just before PC (n= 13 to 17) or administered long after PC but just before PMCAO (n=7 to 8) on IT were also determined. Interleukin- receptor antagonist mRNA (reverse transcriptase and polymerase chain reactions [n=20] and Northern analysis [n=50]) and protein expression (immunohistochemistry [n=16]) after PC and early response gene expression (Northern analysis [n=16]) after PMCAO in PC animals were determined. RESULTS: Hemispheric infarct was significantly (P<0.01) reduced only if PC was performed 1 day (decreased 58.4%), 2 days (decreased 58.1%), or 7 days (decreased 59.4%) before PMCAO. PC significantly (P<0.01) reduced neurological deficits (similar to reductions in infarct size). Cycloheximide eliminated ischemic PC-induced IT effects on both brain injury and neurological deficits if administered before PC (P<0.05) but not if administered long after PC but before PMCAO. PC did not produce any significant brain injury, alter cortical blood flow after PMCAO, or produce contralateral cortical neuroprotection. Interleukin-1 receptor antagonist mRNA and protein expression were increased significantly (P<0.01) only during the IT period. PC rats also exhibited a significant (P<0.01) reduction in c-fos and zif268 mRNA expression after PMCAO. CONCLUSIONS: PC is a powerful inducer of ischemic brain tolerance as reflected by preservation of brain tissue and motor function. PC induces IT that is dependent on de novo protein synthesis. New protein(s) that occurs at the PC brain site 1 to 7 days after PC contributes to the neuroprotection. Those proteins that are produced after the more severe PMCAO in PC animals apparently do not contribute to IT. The PC-induced IT is also associated with increased expression of the neuroprotective protein interleukin-1 receptor antagonist and a reduced postischemic expression of the early response genes c-fos and zif268. (Stroke. 1998;29:1937-1951.)
Animals↗
Guidelines for prescribing psychiatrists in consultative, collaborative, and supervisory relationships.
Most psychiatrists enter into a variety of professional relationships with other clinicians in which they prescribe medications or make recommendations about pharmacotherapy. This paper describes a set of guidelines for prescribing psychiatrists involved in consultation, collaboration, and supervision with other clinicians. The guidelines were developed by psychiatrists for the Harvard Risk Management Foundation. The terms consultation, collaboration, and supervision are defined, and the psychiatrist's roles and responsibilities in each type of arrangement are described. The guidelines limit consultation and collaboration to relationships with professionals who are licensed or credentialed. Based on the definitions, the paper describes a structure for working with other clinicians, which begins with a thorough assessment of the context and circumstances of the clinical situation. The guidelines strongly encourage structured communication among clinicians and with the patient and significant others, as well as clarification by clinicians of their respective responsibilities for treatment and follow-up.
Clinical Competence↗
Aftereffects and sense of presence in virtual environments: formulation of a research and development agenda.
This report represents a committee summary of the current state of knowledge regarding aftereffects and sense of presence in virtual environments (VEs). The work presented in this article, and the proposed research agenda, are the result of a special session that was set up in the framework of the Seventh International Conference on Human Computer Interaction. Recommendations were made by the committee regarding research needs in aftereffects and sense of presence, and, where possible, priorities were suggested. The research needs were structured in terms of the short, medium, and long term and, if followed, should lead toward the effective use of VE technology. The 2 most critical research issues identified were (a) standardization and use of measurement approaches for aftereffects and (b) identification and prioritization of sensorimotor discordances that drive aftereffects. Identification of aftereffects countermeasures (i.e., techniques to assist users in readily transitioning between the real and virtual worlds), reduction of system response latencies, and improvements in tracking technology were also thought to be of critical importance.
Adaptation, Physiological↗
Clinical evaluation of a new, miniaturized biosensor for self-monitoring of blood glucose.
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Adolescent↗
Golli-MBP proteins mark the earliest stages of fiber extension and terminal arboration in the mouse peripheral nervous system.
The Golli-myelin basic protein (MBP) transcription unit gives rise to two sets of products. One set (i.e., the MBPs) is expressed exclusively in myelin forming cells and the other set (i.e., the golli isoforms) is expressed in both oligodendrocytes and neurons in the CNS. The two major golli proteins, generated from RNAs transcribed from the most upstream promoter of the gene, contain MBP peptide sequences in their C-terminal halves and are, therefore, structurally and immunologically related to the MBPs. We have examined the distribution and localization of golli proteins in the mouse peripheral nervous system (PNS) using immunocytochemistry with a golli-specific antibody. Golli immunoreactivity was first observed in sensory and motor fibers of the mouse at E11 during fiber tract extension, but prior to the maturation of terminal connections. Once neuromuscular junctions had formed, golli immunoreactivity appeared in motor endplates and persisted to the latest age examined, P60. Golli immunoreactivity was also observed in the cell bodies and processes of the dorsal root ganglia throughout development. Strong staining in the PNS of the dysmyelinating mutant shiverer suggested that the major golli protein in peripheral fibers was the BG21 isoform. Interestingly, golli immunoreactivity was also found in adrenal chromaffin cells, which share a common neural crest derivation with other postganglionic neurons that express golli protein. These results suggest that in addition to its role in early forming neuronal systems of the CNS, golli protein also plays a role in the early development and maintenance of neurons in the PNS.
Animals↗