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Biomedical subjects

M Genovese

Publications and source records attributed to M Genovese.

33 records · Page 2Linked to original sources
PubMed1992

Incidence of and risk factors for hospitalizations in systemic lupus erythematosus: a prospective study of the Hopkins Lupus Cohort.

OBJECTIVE: To determine the incidence of and risk factors for hospitalization in systemic lupus erythematosus (SLE). METHOD: A prospective study of hospitalizations in 1989 and 1990 in the Hopkins Lupus Cohort was conducted. RESULTS: Of 261 patients with SLE in the Hopkins Cohort, 147 (56.3%) were hospitalized in 1989 or 1990. The incidence of hospitalization was 0.69 admissions/person-year. The mean length of stay was 9.6 days +/- 12.7 (SD). Activity of SLE accounted for 35% of admissions. Risk factors for hospitalization for active lupus in 1990 included activity of SLE in 1989 (measured by either the highest physician's global assessment in 1989, p = 0.004, highest lupus activity index (LAI) score in 1989, p = 0.002, or highest systemic lupus erythematosus disease activity index score in 1989, p = 0.008), an average prednisone dose greater than 10 mg in 1989 (p = 0.002), and the presence of neurologic lupus in 1989 (p = 0.02). Medical admissions other than for active SLE accounted for an additional 27% of admissions; one-half of these admissions (47%) were for complications of SLE and/or its treatment, with coronary artery disease the most common (21% of medical admissions). Infections were responsible for 14% of admissions. The majority of infections were bacterial (90%). Risk factors for hospitalization for infection in 1990 included active SLE in 1989 (p = 0.03), average prednisone dose of greater than 10 mg in 1989 (p = 0.04), immunosuppressive drug use in 1989 (p = 0.003), neurologic SLE in 1989 (p = 0.02) and previous hospitalization in 1989 (p = 0.03). CONCLUSION: Hospitalization is common in the Hopkins Lupus Cohort, with active SLE (35%), infection (14%, infection and/or active SLE; 11%, infection alone) and medical complications of SLE (13%) as the 3 most common causes.

Adult↗
PubMed1991

Definition, incidence, and clinical description of flare in systemic lupus erythematosus. A prospective cohort study.

The course of systemic lupus erythematosus (SLE) is characterized by exacerbations (or flares) and remissions of disease activity. As part of an ongoing prospective cohort study, 3 disease activity indices, the physician's global assessment, the Lupus Activity Index, and the University of Toronto SLE Disease Activity Index, have been recorded, at least quarterly since 1987, on 185 SLE patients. We developed a definition of SLE flare and a description of its clinical epidemiology. Disease flare was defined as a change of greater than or equal to 1.0 in the physician's global assessment of disease activity (measured on a 0-3 scale) from the previous visit or from a visit within the last 93 days. Of the 185 patients, 98 (53%) had greater than or equal to 1 flare; the total number of flares was 146. The incidence of flare was 0.65 per patient-year of followup. The median time from the first study visit to a flare was 12 months. Flares were frequently characterized by constitutional symptoms, musculoskeletal involvement, cutaneous involvement, and decreasing levels of C3 and C4. At the time of flare, the mean University of Toronto SLE Disease Activity Index score increased by 3.0 and the mean Lupus Activity Index score (modified to omit the physician's global assessment) increased by 0.26. Overall, 44.8% of the flares prompted a change in treatment. Patients who experienced flares fulfilled more of the SLE criteria at entry and had been followed up for a longer duration after entry into the study, compared with those who did not have flares.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1990

Progress toward an internal control system for fragile-X induction by 5-fluorodeoxyuridine in whole-blood cultures.

We have been attempting to develop a consistently reliable internal control to assure the effectiveness of the 5-fluorodeoxyuridine (FUdR) fragile-X [fra(X)] induction system. We carried out a systematic study of whole-blood specimens cultured from 56 individuals from two different laboratories. An analysis of nearly 9,000 cells demonstrated: (1) the importance of establishing baseline levels of fragile sites in each laboratory, and (2) that a combination of common fragile sites (different for each laboratory) could serve as a consistently reliable indicator of the effectiveness of the FUdR fra(X) induction system. It was suggested that a non-FUdR culture(s) should be incorporated into a laboratory's fra(X)-screening protocol, so that if there are any doubts about the effectiveness of the FUdR system a comparison to background or spontaneously occurring fragile sites can be made within the laboratory. Repeat cultures are recommended where no increase in common fragile-site frequency is observed in the FUdR induction system, and where fra(X) was strongly suspected but not found. In addition, the necessity of using more than one fra(X) induction system in whole-blood cultures was demonstrated, including the effectiveness of an FUdR/excess thymidine double-induction system. Finally, 2 cases of apparent mosaicism for Klinefelter syndrome in fra(X) individuals were observed.

Blood Cells↗
PubMed1983

Abnormal responses of wasted ventilation fraction (VD/VT) during exercise in patients with pulmonary vascular abnormalities.

The finding of a rise in VD/VT or failure of VD/VT to fall during exercise has been proposed as a useful noninvasive indicator of pulmonary vaso-occlusive disease in patients with unexplained dyspnea. However, we previously reported a normal fall in VD/VT during exercise in patients with pulmonary hypertension at rest and/or during exercise due to collagen vascular disease. To investigate further the relationship between pulmonary vascular abnormalities and VD/VT responses to exercise, we studied 4 subjects with severe hypoxemia due to cirrhosis or diffuse telangiectasia. We found an abnormal VD/VT response to exercise in these subjects despite normal pulmonary hemodynamics which effectively excluded hemodynamically significant pulmonary vascular obstruction. These findings provide further support for the lack of utility of the VD/VT measurement at rest and during exercise as a screening method for detecting pulmonary vaso-occlusive disease, since the VD/VT cannot only fall appropriately during exercise in patients with pulmonary hypertension but can also remain unchanged or rise during exercise in patients with normal pulmonary hemodynamics.

Adolescent↗
PubMedDate not supplied

Dialyzed fetal bovine serum increases cytogenetic fragile X expression.

UNLABELLED: Short-term whole blood cultures from 9 unrelated male individuals with the fragile X [fra(X)] syndrome were exposed to 5-fluorodeoxyuridine (FUdR). The fra(X) frequency was higher in 8 of 9 cases where the complete medium contained dialyzed fetal bovine serum (DFBS). In 3 of the cases, the fra(X) frequency nearly tripled (e.g., 12/100 to 33/100) while in 2 others, it nearly doubled (e.g., 15/100 to 29/100). When DFBS cultures from 2 other fra(X) individuals were exposed to increasing folic acid concentrations ranging from 2 to 4,000 x 10(-6) M, there was virtually no change in fra(X) expression. In 6 of 9 DFBS cultures, the mitotic index decreased, and it increased in 3. Therefore, although the fra(X) frequency increased, in most DFBS cultures the mitotic index decreased. Whether the reduction in mitotic index indicates an inverse correlation between reduced mitotic index and increased fra(X) expression, at least in cultures from some individuals, will be determined by additional studies. IN CONCLUSION: (1) medium supplementation with dialyzed fetal bovine serum should be considered when using FUdR for fra(X) identification in order to avoid potentially false negative results; (2) there appears to be no direct correlation between increased mitotic index and increased fra(X) expression in whole blood cultures; (3) increased folic acid concentrations do not affect fra(X) expression when FUdR fra(X) induction is employed; therefore requesting people to refrain from taking vitamins, including folic acid, before fra(X) testing (a practice that still persists in some places) appears unnecessary.

Animals↗
PubMedDate not supplied

Characterization of an analphoid, neocentromere-positive inv dup 8p marker chromosome using multiplex whole chromosome and sub-telomere FISH analyses.

A 30-year-old male patient with mild mental retardation was found to have a small supernumerary marker chromosome (SMC) in 90% of his peripheral blood cells and in 100% of his fibroblast cells. Multiplex whole chromosome and sub-telomere FISH analyses were used to determine that this SMC is an inverted duplicated distal chromosome 8p fragment. Although it was negative for alpha-DNA sequences, this marker had a functional kinetochore (neocentromere) demonstrated by a positive signal with a CENP-C antibody. Apparently intact 8p telomeres at the marker's ends were demonstrated by using a telomere repeat FISH probe. The patient's phenotypically normal mother on G-banding analysis had a small marker chromosome in 8% of her peripheral blood cells in two cultures of the first specimen studied. The marker was not seen in any subsequent maternal peripheral blood or fibroblast specimens. Although it was impossible to further characterize the maternal SMC, it was suggested that the mother had the same marker as the one seen in the proband. Inverted duplicated chromosomal fragments are the most frequent type of analphoid markers. Stable inverted duplicated 8p marker chromosomes were previously reported in three other patients. They all apparently occurred de novo and were found to be positive for kinetochore-associated proteins. Evidence for the possible inheritance of an inverted-duplicated, analphoid SMC was not shown to-date. This study also demonstrates a practical, straightforward approach for analphoid marker characterization in clinical laboratory settings, using whole chromosome multiplex and subtelomere-specific FISH analyses. FISH probes for all sub-telomere chromosomal regions are commercially available and the large majority of analphoid marker chromosomes involve telomere regions.

Adult↗
PubMedDate not supplied

COX-2 selective inhibitors and bone.

Non-steroidal anti-inflammatory drugs (NSAIDs) are widely prescribed medications for relief of pain and inflammation. Recent animal studies using models of fracture healing and bone ingrowth suggest that NSAIDs (both non-selective NSAIDs and selective COX-2 inhibitors) adversely affect these bone-related processes. The dose and time-relationships of these medications and their resulting effects on bone have not yet been fully elucidated. Furthermore, whether COX-2 inhibitors and non-selective NSAIDs lead to clinically relevant adverse effects on bone healing in humans is unknown.

Animals↗