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Biomedical subjects

A Lipson

Publications and source records attributed to A Lipson.

At least 19 recordsLinked to original sources
PubMed2003

Vascular endothelial growth factor improves functional outcome and decreases secondary degeneration in experimental spinal cord contusion injury.

Spinal cord injury leads to acute local ischemia, which may contribute to secondary degeneration. Hypoxia stimulates angiogenesis through a cascade of events, involving angiogenesis stimulatory substances, such as vascular endothelial growth factor (VEGF). To test the importance of angiogenesis for functional outcome and wound healing in spinal cord injury VEGF165 (proangiogenic), Ringer's (control) or angiostatin (antiangiogenic) were delivered locally immediately after a contusion injury produced using the NYU impactor and a 25 mm weight-drop. Rats treated with VEGF showed significantly improved behavior up to 6 weeks after injury compared with control animals, while angiostatin treatment lead to no statistically significant changes in behavior outcome. Furthermore, VEGF-treated animals had an increased amount of spared tissue in the lesion center and a higher blood vessel density in parts of the wound area compared with controls. These effects were unlikely to be due to increased cell proliferation as determined by bromo-deoxy-uridine-labeling. Moreover, VEGF treatment led to decreased levels of apoptosis, as revealed by TUNEL assays. In situ hybridization demonstrated presence of mRNA for VEGF receptors Flt-1, fetal liver kinase-1, neuropilin-1 and -2 in several important cellular compartments of the spinal cord. The different experiments indicate that beneficial effects seen by acute VEGF delivery was attributable to protection/repair of blood vessels, decreased apoptosis and possibly also by other additional effects on glial cells or certain neuron populations.

Analysis of Variance↗
PubMed1997

Carbohydrate deficient glycoprotein syndrome type I: a cause of cerebellar vermis hypoplasia.

To report the first case of carbohydrate deficient glycoprotein syndrome Type I (CDG I) that has been identified in Australia and confirmed enzymatically to raise the awareness of paediatricians with regard to CDG I and its manifestations, implications and diagnostic investigations. Clinical and autopsy findings of an infant with CDG I are presented. The diagnosis of CDG I was suggested by the clinical findings and biochemical abnormalities and was confirmed by showing an abnormal transferrin isoform pattern. Subsequent studies showed a reduced level of phosphomannomutase in skin fibroblasts. Carbohydrate-deficient glycoprotein syndrome I is one of the many causes of cerebellar hypoplasia. It is an important disorder to identify because of the prognostic and genetic implications and may be underdiagnosed in Australia.

Cerebellum↗
PubMed1996

Velo-cardio-facial and partial DiGeorge phenotype in a child with interstitial deletion at 10p13--implications for cytogenetics and molecular biology.

We report on a female with a interstitial deletion of 10p13 and a phenotype similar to that seen with the 22q deletion syndromes (DiGeorge/velo-cardio-facial). She had a posterior cleft palate, perimembranous ventricular septal defect, dyscoordinate swallowing, T-cell subset abnormalities, small ears, maxillary and mandibular hypoplasia, broad nasal bridge, deficient alae nasi, contractures of fingers and developmental delay. This could indicate homology of some developmental genes at 22q and 10p so that patients with the velocardiofacial phenotype who do not prove to be deleted on 22q are candidates for a 10p deletion.

Abnormalities, Multiple↗
PubMed1993

Prenatal diagnosis of DHPR deficiency by direct detection of mutation.

Prenatal diagnosis was requested by a family carrying a 3 base-pair insertion in the dihydropteridine reductase (DHPR) coding region. A chorionic villus sample was obtained and fetal DNA was isolated directly from this. Diagnosis was performed by a polymerase chain reaction (PCR)-based technique, with a simple electrophoretic assay for the insertion. The fetus was found to be heterozygous for the insertion. This is the first time that prenatal diagnosis of DHPR deficiency has been performed by direct detection of the mutation.

Base Sequence↗
PubMed1993

The structural complexities of the myelin basic protein gene from mouse are also present in shark.

The Golli-mbp gene complex contains two overlapping transcription units with two distinct promoters, of which the downstream (myelin basic protein [mbp]) promoter is more frequently used. A previous comparison of the downstream promoter sequences from shark and mouse allowed the identification of two DNA sequences called the boxes I and II and the wobble zone. The boxes I and II sequence is a composite cis-acting motif that is thought to be involved in the regulation of the downstream promoter. It contains sequences similar to T-antigen, MyoD/E2A, and glucocorticoid receptor-binding sites. The wobble zone codes for an exon (5a in the nomenclature of Campagnoni et al., 1993) that is included in messenger RNAs transcribed from the upstream promoter. The polypeptides encoded by this exon from shark and mouse are 86 and 84 amino acids long, respectively. These polypeptides are overall 59% identical and include a region (residues 41-75 in shark and 39-73 in mouse) that is 89% identical between the two species. A primary sequence analysis showed that each of these polypeptides contains an N-glycosylation site, phosphorylation sites for Ca2+/calmodulin-dependent protein kinase, protein kinase C and casein kinase II, and partial ATP- and GTP-binding sites. The shark polypeptide also contains a phosphorylation site for proline-directed protein kinase. These observations are consistent with the notion that the intricate structure and regulation of the Golli-mbp gene complex arose during vertebrate evolution within a common ancestor to sharks and mammals.

Amino Acid Sequence↗
PubMed1993

A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10.

Hirschsprung disease (HSCR) is characterized by a congenital absence of enteric ganglia along a variable length of the intestine. Although long considered to be a multifactorial disease, we have identified linkage in a subset of five HSCR families to the pericentromeric region of chromosome 10, thereby providing monogenic inheritance in some families. A maximum two-point lod score of 3.37 (theta = 0.045) was observed between HSCR and D10S176, under an incompletely penetrant dominant model. Multipoint, affecteds-only and non-parametric analyses supported this finding and localize this gene to a region of approximately 7 centiMorgans, in close proximity to the locus for multiple endocrine neoplasia type 2 (MEN2). The co-occurrence of these two entities in some families might be attributable to shared pathogenetic origins.

Alleles↗
PubMed1992

Irrational reactions to negative outcomes: evidence for two conceptual systems.

According to cognitive-experiential self-theory (CEST), individuals have 2 systems for processing information, a rational system and an experiential system. Research conducted under norm theory (NT) has provided impressive evidence of an if only (IO) effect associated with postoutcome processing of aversive events that are highly consistent with formulations in CEST. Two studies involving vignettes adapted from NT were conducted that tested 4 hypotheses and corollaries derived from CEST. It was demonstrated, in support of hypotheses, that the IO effect can be obtained with ratings of one's own and of a protagonist's specific behaviors, as well as with ratings of a protagonist's diffuse emotions (the usual procedure); that a rational orientation decreases the IO effect; that increasing the intensity of outcomes increases it; and that priming the experiential system reduces people's ability to subsequently think rationally. The theoretical and research implications of these findings are discussed.

Adult↗
PubMed1991

The care of the limb deficient child in Australia.

The incidence of limb deficiency is given as is the prevalence of prosthetic use in Australia. The organisation of clinics and the Free Limb Scheme is described and its effects discussed.

Artificial Limbs↗
PubMed1990

Barium studies and ileoscopy compared in children with suspected Crohn's disease.

The findings on barium follow through, ileoscopy and biopsy of the terminal ileum in 46 children with suspected chronic inflammatory bowel disease have been compared to the final clinical diagnosis. Ileoscopy and barium follow through agreed in 91%, barium follow through and biopsy in 80% and barium follow through, ileoscopy and biopsy in 76% of cases. A pronounced lymphoid hyperplasia pattern was present radiologically in 24%, and was a source of error in two cases. Barium follow through compared favourably to ileoscopy or biopsy individually, detecting 18 of 20 and 17 of 20 cases respectively; however, ileoscopy combined with biopsy diagnosed every case. The sensitivity of the barium follow through was 0.90 with a specificity 0.96 for the diagnosis of Crohn's disease in the terminal ileum.

Barium Sulfate↗