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Biomedical subjects

F DiPillo

Publications and source records attributed to F DiPillo.

5 recordsLinked to original sources
PubMed1997

Highly complex chromosomal aberrations in bone marrow of a patient with metastatic prostate neoplasm.

Prostate cancer is the single most common malignancy among men in North America. Nevertheless, cytogenetic evaluation of bone marrow in patients with metastatic prostate neoplasm has been rare and, to date, only five such patients have been reported. We report an additional case where chromosomal abnormalities of a bizarre nature were found in the bone marrow. Though cytogenetic findings in prostate cancer are heterogeneously complex, the chromosome regions involved include 1p, 1q, 7q, 8p, 10q, 12p, and 17q and are considered hot spots. What is the significance of these so-called hot spots in metastasis of prostatic cancer to the bone marrow? At present, no meaningful conclusion can be drawn, as data are limited, but accumulation of such cases may provide valuable information concerning the role of chromosomal abnormalities in patients--specifically with metastatic stage--and may help urologists during therapeutic decision making, particularly if a genetic marker for aggressiveness can be determined.

Adenocarcinoma↗
PubMed1994

T-cell receptor J beta I/J beta II locus rearrangements concurring with a complex chromosomal aberration in an HTLV-1 positive T-cell lymphoma.

Human T-lymphotropic virus type I (HTLV-1) integration has been associated with the development of adult T-cell leukemia/lymphoma (ATL). Recently, a correlation between T-cell receptor (TCR) gene rearrangements and chromosomal aberrations has been implicated in this leukemia. We present a case of HTLV-1 infected adult T-cell lymphoma that initially presented with a normal karyotype and germline J beta I/J beta II loci. As the disease evolved to the aggressive stage, a complex chromosomal rearrangement with a duplication of chromosome 6p23-->pter translocated to a derivative chromosome 16, was identified by molecular cytogenetic techniques. The nature of this complex abnormality would have been difficult to determine if only conventional banding techniques were performed. Rearrangement involving one J beta allele was also detected at that time. After initiation of chemotherapy, no germline J beta loci were detected, suggesting a possible second rearrangement involving this locus that was homologous. Although no known immune response genes are located at the breakpoints involved in this abnormality, the chromosomal aberration concurred with the initial J beta rearrangement.

Adult↗
PubMed1990

Urinary red cell size: diagnostic value and determinants.

Urinary red blood cells (RBC) are usually small and morphologically abnormal in glomerular (GN) hematuria, and slightly enlarged and morphologically normal in nonglomerular (NG) hematuria. This study was performed to evaluate the diagnostic value of urinary red cell size and morphology and to investigate the mechanism of the alteration in cell size. In 34 consecutive patients with hematuria we examined the urinary RBC size distribution and mean corpuscular volume (MCV) by electronic sizing of suspensions of RBC in an isotonic medium and, in 28 cases, compared it with the presence of 50% or greater dysmorphia. In 15 consecutive cases, we correlated MCV values with urine chemistries. In two GN cases we recorded the urine MCV serially during a furosemide-induced diuresis. In vitro incubations of peripheral or urinary RBC in various electrolyte solutions prior to sizing were also performed. The MCVs were significantly lower in GN (p less than 10(-6)) and probable GN (p less than 10(-4)) than NG hematuria. A cutoff of 72 fl completely separated GN and probable GN from NG cases. Fifty percent or more 'dysmorphic' RBC were seen in 12 of 13 GN, 3 of 4 probable GN but in no NG sediments. In patients with NG hematuria, the ratio of urinary to peripheral MCV tended to be greater than unity and correlated strongly with pH (r = -0.97; p less than 0.002). The effect of pH was confirmed in vitro. Furosemide diuresis induced a partial correction of the microcytosis of GN RBC, which correlated with the changes in urine composition. Furosemide had no effect on GN cells in vitro.(ABSTRACT TRUNCATED AT 250 WORDS)

Diuresis↗
PubMed1972

Unstable variant of NADH methemoglobin reductase in Puerto Ricans with hereditary methemoglobinemia.

The electrophoretic mobility of erythrocyte NADH methemoglobin reductase in five hereditary methemoglobinemia patients from three Puerto Rican kindreds was 118% of normal at pH 8.6. The methemoglobin ferrocyanide reductase activity of the enzyme in erythrocyte hemolysates was 3.2-6.4% of normal. Electrophoresis of hemolysates prepared from the blood of patients from two different families at six pH values between 4.6 and 9.3 did not differentiate between the variant enzymes. Examination of the deficient enzymes extracted from the erythrocytes of one patient from each kindred revealed altered affinity for NADH and dichloroindophenol dye and decreased thermal stability. The quantitative similarity of the abnormal findings, together with the Puerto Rican origin of the kindreds, suggested that the cyanotic patients possessed the same abnormal enzyme and were thus homozygous for the same rare mutant gene. Consanguinity of the kindreds could not be established. The rates of decline of the normal and variant NADH methemoglobin reductase enzymes in vivo were measured in erythrocyte fractions of increasing cell age. The rate of decline of the variant enzyme was increased 20-fold by comparison with the normal enzyme. The methemoglobin percentage in erythrocyte fractions of increasing cell age correlated inversely with the activity of the variant. The variant enzyme averaged 37% of normal mean activity in young cells and 1% in old cells. The normal enzyme, on the other hand, lost only one-sixth of its activity as the cells aged, and the methemoglobin content in old normal cells did not rise. These observations support the hypothesis that the deficient activity and the heterogeneous pattern of methemoglobin accumulation in vivo arise principally from the accelerated inactivation of variant NADH methemoglobin reductase during the life-span of the red blood cell.

Adolescent↗