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Biomedical subjects

L Gordon

Publications and source records attributed to L Gordon.

At least 73 records · Page 4Linked to original sources
PubMed1997

Diamond-Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation.

A 7 year old girl is described with congenital hypoplastic anaemia (Diamond-Blackfan anaemia, DBA) and an apparently balanced reciprocal translocation, 46,XX,t(X;19)(p21;q13). The girl has associated features including short stature, unilateral kidney hypoplasia, and a branchial cyst. Fluorescent in situ hybridisation (FISH) studies with 19q specific cosmids showed that the chromosome 19 breakpoint is located between the RYR1 and the XRCC11 loci spanning a physical region of 5 Mb. There is no family history of DBA and the parents and two healthy sibs have normal karyotypes. This is the first report of a balanced translocation associated with DBA and we suggest that the distinct phenotype has resulted from a de novo disruption of a functional gene. DBA can be inherited as an autosomal trait and our observation may indicate a candidate gene for the disorder in the 19q13 region.

Blood Transfusion↗
PubMed1997

Quick method for confirmation of quantitative trait loci.

Numerous algorithms for the identification and genetic mapping of quantitative trait loci (QTL) have been developed. Methods for confirming QTL maps involve either examination of independent segregating populations or the construction of congenic lines differing only in the QTL of interest. Because these projects require a minimum of several years or thousands of marker assessments in laboratory mice, an alternative, faster congenic method has been proposed. In a preliminary study, we tested this method for confirming QTLs identified in crosses between the ILS and ISS selected lines of mice for differential sensitivity to the hypnotic effects of ethanol. Herein, we report the construction of "segregating congenic" strains in which each QTL is made homozygous in a single generation, whereas the remainder of the genetic background is allowed to segregate. Sensitivity to ethanol among the progeny of such mice is consistent with predictions. Phenotypic variation is high, as expected, due to the background segregation, and statistical significance was attained in only 2 of 7 comparisons. Such segregating congenic populations may be a valuable research tool for confirming QTL map positions and for subsequent assessment of individual pathways and mechanisms of action of individual QTLs.

Alcoholism↗
PubMed1996

Strain distribution patterns for genetic markers in the LSXSS recombinant-inbred series.

We present the strain distribution patterns (SDPs) of 118 SSLP markers and three pigmentation genes that have been characterized in 27 strains from the LSXSS RI series. This coarse map provides a resource for linkage studies of phenotypes that are heritable in the LSXSS RI series. The LSXSS recombinant inbred (RI) strains were derived from the Long-Sleep (LS) and Short-Sleep (SS) selected lines of mice that were selected for differential sensitivity to ethanol but are also differentially sensitive to a variety of other alcohols, barbiturates, sedative hypnotics, and general anesthetics. Since the parents were not inbred, two atypical factors are present in these SDPs. First, more than two alleles are frequently found in these RIs, and second, some alleles can be uniquely associated with one or the other parent while other alleles may be found in both parental lines. To validate the markers found in the parental line, we genotyped all parental mice from one generation of both the LS and SS lines, thus leading to a set of marker SDPs that are useful for further phenotypic association and identification of provisional QTLs.

Alleles↗
PubMed1996

Detection of herpes simplex virus (types 1 and 2) and human herpesvirus 6 DNA in human brain tissue by polymerase chain reaction.

BACKGROUND: Previous studies, using a variety of techniques to determine whether herpes simplex virus type 1 (HSV-1) and/or type 2 (HSV-2) are present in normal brains or have a higher incidence in either multiple sclerosis (MS) or psychiatric disorders have yielded conflicting results. Similarly, studies to examine human brain tissue for human herpes virus 6 (HHV-6) have also proved inconsistent. These discrepancies may be partially due to differences in sensitivity of the methods used. OBJECTIVES: To determine whether: (i) Herpesvirus latency is a normal occurrence in the human central nervous system (CNS), (ii) the incidence of latency is higher in either demyelinating diseases or schizophrenia (iii) significant virus reactivation occurs in demyelinating diseases. STUDY DESIGN: Frozen brain tissue from 7 cases of MS/demyelinating disease, 6 cases of schizophrenia and 27 non-neurological and 3 neurological controls were examined by polymerase chain reaction (PCR) for the presence of HSV-1 DNA. Tissue from the above catagories (except schizophrenia) were also examined for HSV-2 and HHV-6 DNA. In situ hybridization (ISH) and immunocytochemistry (ICC) were carried out in formalin-fixed paraffin sections from selected HSV PCR positive cases, including a case of HSV encephalitis (HSE). RESULTS: Cases from all groups were found to be positive for HSV-1 by PCR. Only one case (MS) was found positive for HSV-2, whereas HHV-6 DNA was present in 18 of 23 brains (MS and controls). Only the HSE case gave positive results with ISH and ICC techniques. CONCLUSIONS: These results suggest that herpesvirus latency in the human CNS is a common occurrence but there is no obvious correlation with increased incidence in either demyelinating disease or schizophrenia. Furthermore, failure to detect virus by ISH or ICC (except in a case of HSE) indicates lack of any significant virus reactivation in demyelinating diseases.

Journal Article↗
PubMed1996

Recurrent lower gastrointestinal hemorrhage: ileal neoplasm diagnosed by scintigraphy with Tc 99m red blood cells and angiography.

A 71-year-old man with recurrent lower gastrointestinal bleeding had negative colonoscopic findings on three occasions. Preoperative diagnosis of a large stromal tumor in the right lower quadrant was based on scintigraphy with tagged red blood cells and mesenteric arteriographic features. The use of nuclear scintigraphy in the diagnosis and evaluation of stromal tumor of unknown malignant potential has not been previously described.

Aged↗
PubMed1996

Prevention of earlobe keloid recurrence with postoperative corticosteroid injections versus radiation therapy: a randomized, prospective study and review of the literature.

BACKGROUND: Simple excision of earlobe keloids can result in recurrence rates approaching 80%. Many modalities have been suggested to reduce the risk of recurrence postoperatively, including intralesional steroids and radiotherapy. OBJECTIVE: In order to determine the most reliable method to prevent keloid recurrence, we have conducted the first randomized, prospective trial comparing corticosteroid injections versus radiation therapy. RESULTS: Thirty-one keloids were treated and followed for a minimum of 12.0 months. Two of 16 keloids (12.5%) recurred after surgery and radiation therapy, while 4 of 12 (33%) recurred after surgery and steroid injections. No alteration of skin pigmentation, wound dehiscence, chronic dermatitis, or neoplastic changes was observed in any patient in either group. Although a statistically significant difference was not observed, radiotherapy appeared to be more effective than steroid injections in preventing keloid recurrence. CONCLUSIONS: Radiotherapy is a simpler treatment modality with better patient compliance, and patients were much more likely to complete treatment than with corticosteroid injections. We believe that radiotherapy can play an important role in the prevention of earlobe keloid recurrences, and that with current techniques, complications can be minimized. Further randomized study with additional patients is needed to compare the effectiveness of corticosteroid injections and radiotherapy in preventing keloid recurrence.

Administration, Topical↗
PubMed1996

Phase I/II study of combined granulocyte colony-stimulating factor and granulocyte-macrophage colony-stimulating factor administration for the mobilization of hematopoietic progenitor cells.

PURPOSE: To study the toxicity and efficacy of combined granulocyte colony-stimulating factor (G-CSF) and granulocyte-macrophage colony-stimulating factor (GM-CSF) administration for mobilization of hematopoietic progenitor cells (HPCs). MATERIALS AND METHODS: Cohorts of a minimum of five patients each were treated subcutaneously as follows: G-CSF 5 micrograms/kg on days 1 to 12 and GM-CSF at .5, 1, or 5 micrograms/kg on days 7 to 12 (cohorts 1, 2, and 3); GM-CSF 5 micrograms/kg on days 1 to 12 and G-CSF 5 micrograms/kg on days 7 to 12 (cohort 4); and G-CSF and GM-CSF 5 micrograms/kg each on days 1 to 12 (cohort 5). Ten-liter aphereses were performed on days 1 (baseline, pre-CSF), 5, 7, 11, and 13. Colony assays for granulocyte-macrophage colony-forming units (CFU-GM) and erythroid burst-forming units (BFU-E) were performed on each harvest. RESULTS: The principal toxicities were myalgias, bone pain, fever, nausea, and mild thrombocytopenia, but none was dose-limiting. Four days of treatment with either G-CSF or GM-CSF resulted in dramatic and sustained increases in the numbers of CFU-GM per kilogram collected per harvest that represented 35.6 +/- 8.9- and 33.7 +/- 13.0-fold increases over baseline, respectively. This increment was attributable both to increased numbers of mononuclear cells collected per 10-L apheresis and to increased concentrations of progenitors within each collection. The administration of G-CSF to patients already receiving GM-CSF (cohort 4) caused the HPC content to surge to nearly 80-fold the baseline (P = .024); the reverse sequence, ie, the addition of GM-CSF to G-CSF, was less effective. The CFU-GM content of the baseline aphereses correlated with the maximal mobilization achieved (r = .74, P = .001). CONCLUSION: Combined G-CSF and GM-CSF administration effectively and predictably mobilizes HPCs and facilitates apheresis.

Adolescent↗
PubMed1996

Early motion after replantation.

Early motion should be begun as soon as possible after replantation but must be tailored to the specific injury. It is important to move joints and glide tendons and nerves within a safe short arc range of motion. This technique prevents many of the deleterious effects of immobilization, stiffness, and adhesion formation, at the same time protecting tendon, nerve, and vascular repairs. A well thought-out clinical plan for mobilization combined with a considerate and compassionate approach to the emotional, financial, and social needs of the patient ensures a good result.

Adult↗
PubMed1995

A continuous high-resolution physical map spanning 17 megabases of the q12, q13.1, and q13.2 cytogenetic bands of human chromosome 19.

We report the construction of a high-resolution physical map of a 17-Mb region that encompasses the entire q12, q13.1, and q13.2 bands of human chromosome 19. The continuous map extends from a region approximately 400 kb centromeric of the D19S7 marker to the excision repair cross-complementing rodent repair deficiency complementation group 1 (ERCC1) locus. The ordered clone map has been obtained starting from a foundation of cosmid contigs assembled by automated fingerprinting and localized to the cytogenetic map by fluorescence in situ hybridization (FISH). Clonal continuity of the map has been achieved by binning and linking the premapped cosmid contigs by means of yeast artificial chromosomes (YACs). The map consists of a single contig composed of 169 YAC members (minimal spanning path of 18 YACs) linking 165 cosmid contigs. Eighty percent, or about 13.2 Mb of the entire region spanned by the map, has been resolved to the EcoRI restriction map level. Twenty-nine sequence-tagged sites associated with genetic markers or derived from FISH-mapped cosmids have been placed on the map. In addition to the ERCC1 gene area, the map includes the location of the creatine kinase muscle locus (CKM), imidazoledipetidase (PEPD), glucophosphate isomerase (GPI), myelin-associated glycoprotein (MAG), the apolipoprotein E and C (APOE and APOC) genes, and the ryanodine receptor (RYR1) gene. This type of map provides a source of continuously overlapping DNA segments at a level of resolution two orders of magnitude higher than that obtained using YACs alone. In addition, it provides ready-to-use reagents for detailed analyses at the gene level, FISH studies of chromosomal aberrations, and DNA sequencing.

Chromosome Mapping↗
PubMed1995

Demonstration that bone mineral density of the lumbar spine, trochanter, and femoral neck is higher in black than in white young men.

The incidence of osteoporosis and fractures of the hip and spine is lower in black than in white subjects. To determine whether bone mass is increased in black men and to assess the influence of body weight and age, bone mineral density (BMD) of the lumbar spine, trochanter, and femoral neck was measured by dual-photon absorptiometry in 59 normal white men and 40 black men between the ages of 20 and 50 years. Body weight and age were not different from each other in the two groups. BMD of the midradius was measured by single-photon absorptiometry. Multivariate regression was used for independent analysis of each group and for analysis of the two groups together. After adjusting for body weight, age was inversely related to BMD of the femoral neck in both blacks and whites and of the trochanter in blacks. When body weight was analyzed independently of age, it was a positive predictor for BMD of the midradius of black men and of the femoral neck in white men. Despite the racial differences in age and weight on BMD, there were no significant interactions between race and age or race and weight when the data from black and white men were combined. Race had a highly significant effect on BMD of the lumbar spine, trochanter, and femoral neck midradius, and BMD was higher in blacks than in whites at these sites.(ABSTRACT TRUNCATED AT 250 WORDS)

Absorptiometry, Photon↗
PubMed1995

Housing choice and community success for individuals with serious and persistent mental illness.

Consumer choice is a central principle of psychosocial rehabilitation and supported housing approaches. This study assessed level of housing choice and the relationship of choice to community success in supported housing demonstration projects in five states. Assessment of level of choice about housing revealed very limited housing options and a high degree of influence from service providers over housing choice. Despite few options, most respondents liked their housing option(s) and felt they had enough information to make a good housing decision. The relationship of choice to community success over time demonstrated that choice was positively related to housing satisfaction, residential stability, and psychological well-being. Discussion focuses on implications of the findings for mental health services and public policy.

Adolescent↗
PubMed1995

In-111 pentetreotide. Superior imaging agent for gastrinomas.

Gastrinomas are usually diagnosed clinically and localized before surgery using various imaging modalities including ultrasound, computed tomography, magnetic resonance imaging, angiography, and venous sampling. The authors present a case in which CT, MRI, and angiography were negative in attempting to localize the gastrinoma, but In-111 pentetreotide localized the lesion, which was proven surgically.

Diagnosis, Differential↗