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Biomedical subjects

J Ellison

Publications and source records attributed to J Ellison.

At least 19 recordsLinked to original sources
PubMed1999

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↗
PubMed1998

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↗
PubMed1998

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↗
PubMed1998

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↗
PubMed1998

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↗
PubMed1998

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↗
PubMed1998

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↗
PubMed1998

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↗
PubMed1997

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↗
PubMed1997

Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene.

An integrated human-mouse positional candidate approach was used to identify the gene responsible for the phenotypes observed in a mouse model of Niemann-Pick type C (NP-C) disease. The predicted murine NPC1 protein has sequence homology to the putative transmembrane domains of the Hedgehog signaling molecule Patched, to the cholesterol-sensing regions of 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase and SREBP cleavage-activating protein (SCAP), and to the NPC1 orthologs identified in human, the nematode Caenorhabditis elegans, and the yeast Saccharomyces cerevisiae. The mouse model may provide an important resource for studying the role of NPC1 in cholesterol homeostasis and neurodegeneration and for assessing the efficacy of new drugs for NP-C disease.

Amino Acid Sequence↗
PubMed1997

Accidental exposures to blood and body fluids among health care workers in dental teaching clinics: a prospective study.

The authors evaluated accidental exposures to blood and body fluids reported to a hotline or to health officials at four dental teaching clinics. The authors used a standard questionnaire to solicit and record data regarding each exposure. During a 63-month period, 428 parenteral exposures to blood or body fluids were documented. Dental students and dental assistants had the highest rates of exposure. Syringe needle injuries were the most common type of exposure, while giving injections, cleaning instruments after procedures and drilling were the activities most frequently associated with exposures.

Accidents, Occupational↗
PubMed1997

Attitudes of physical therapists who possess sports specialist certification.

Physical therapists contemplating sports specialist certification need research-based information to facilitate their decision-making process. The purpose of this study was to investigate the attitudes of physical therapists who have received sports specialist certification. These attitudes encompass the physical therapists' sense of fulfillment and their feelings of satisfaction or dissatisfaction with the certification process. Factors contributing to the therapist's decision to become sports specialist certified have also been investigated. Physical therapists who are sports certified specialists (N = 110) participated in this study. Questionnaires were mailed to the entire population of physical therapists who are sports certified specialists (N = 148). Frequency distributions and percentages were used on qualitative data, and mode was calculated for quantitative data. One hundred ten surveys were returned, for a response rate of 74.3%. Analysis of responses from the subject group suggests that physical therapists feel a high level of satisfaction with their decision to specialize, and that continued professional growth, development, and personal achievement are the major contributing factors in their decision to specialize. Based on these findings, physical therapists appeared to display overall satisfaction in their attitudes toward sports specialist certification. Further research may be warranted to further examine sports certified therapists' attitudes toward the specialization process.

Adult↗
PubMed1996

Embryonic expression of vasoactive intestinal peptide (VIP) and VIP receptor genes.

Vasoactive intestinal peptide (VIP) exhibits pronounced effects on the growth rate of cultured mouse embryonic day (E) 9.5 embryos and acts in tissue culture as a potent glial mitogen and neuron survival factor. However, previous studies using immunohistochemistry or in situ hybridization in the rat have not revealed the presence and location of VIP or VIP mRNA in the early developing embryo CNS. Using a sensitive in situ hybridization assay with a 33P-labeled riboprobe, we show here that the VIP gene is expressed at least as early as E11 in the mouse hindbrain. Northern blot analysis on RNA from brain dissected from mouse embryos beginning at E14 confirmed that a correct-size mRNA for VIP was present by E14 and at later time points. Expression of the VIP2 receptor gene was also detected by northern analysis in E14 mouse brains. These studies support the hypothesis that VIP produced by the embryo exerts important effects on embryonic nervous system development.

Animals↗
PubMed1994

Isolation and characterization of XE169, a novel human gene that escapes X-inactivation.

Overlapping cDNA clones for a novel human X-linked gene, XE169, have been isolated and characterized. The composite cDNA sequence comprises 5910 bp (or 5901 bp) plus a poly(A) tail, with a 531 bp 5' and 696 bp 3' untranslated regions. The sequence represents a full-length or near full-length cDNA for the gene since Northern blot analysis reveals only a single prominent band approximately 6 kb in size. Alternative splicing generates two distinct transcripts either containing or missing a stretch of nine nucleotides in the XE169 single large open reading frame, which in turn predict two XE169 protein isoforms composed of 1557 and 1560 amino acids, respectively. Southern hybridization analysis of a panel of human-mouse somatic cell hybrids containing various portions of translocated human X chromosomes has assigned XE169 to the proximal half of the X short arm between Xp21.1 and the centromere. XE169 is expressed in multiple human tissues tested and homologous sequences exist on the human Y chromosome and in the genomes of five other eutherian mammals examined. RT-PCR analysis of somatic cell hybrids containing either an active or an inactive human X chromosome on a rodent background demonstrated that XE169 escapes X-inactivation.

Alternative Splicing↗
PubMed1994

Detection of mutations and polymorphisms using fluorescence-based dideoxy fingerprinting (F-ddF).

We have adapted the dideoxy finger-printing (ddF) technique for detecting DNA sequence variants to fluorescence detection (F-ddF) using an Applied Biosystems Model 373A DNA Sequencer equipped with GENESCAN 672 software and an external temperature control device. The fingerprints can be precisely aligned using an internal standard run in the same lanes. This facilitates location and characterization of mobility changes resulting from sequence variants. As compared to fluorescence detected single-strand conformation polymorphism analysis (F-SSCP), F-ddF is equally efficient for detection of sequence variants, and it offers additional advantages. These include information regarding location of the sequence variation, greater reliability for distinguishing one sequence variant from another and the capacity to generate large PCR fragments and analyze them in smaller subsegments. Read length and overall quality of data from F-ddF are sequence-dependent when Taq DNA polymerase is used, but reducing terminator concentration can extend read length. The strengths and weakness of F-ddF and F-SSCP are different. Thus F-ddF may work better in a given situation than F-SSCP and vice versa. A strategy for using F-ddF to circumvent limitations of F-SSCP is described.

Animals↗
PubMed1993

Efficacy of fluorescence-based PCR-SSCP for detection of point mutations.

We assessed the efficiency of fluorescence-based PCR single-strand conformation polymorphism analysis (PCR-SSCP) using an automated DNA sequencer and analysis software. We evaluated 48 point mutations in a 191-bp stretch of mouse beta-globin. The mutations included 10 transversions and 38 transitions; and both types of mutation were compared at six different locations in the PCR fragment. Mobilities of the red dye-labeled internal standard fragments were non-proportional to size but highly reproducible and were used to normalize or correct minor differences in apparent electrophoretic mobility between lanes. Forty-six of forty-eight mutants (96%) were distinguished from wild type when run in separate lanes using one set of conditions. Co-electrophoresis of wild type and mutant in the same lane resolved 100% of 45 mutants from wild type. Under conditions of this study, the magnitude of mobility shifts resulting from the globin mutations were largely determined by position of the mutation, rather than by the nature of the substitution (transition vs. transversion). However, examination of paired mutations at the same position revealed that some substitutions cause greater mobility shifts than others.

Animals↗