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PubMed2005

A study on volatile organic sulfide causes of odors at Philadelphia's Northeast Water Pollution Control Plant.

Volatile organic sulfide (VOS) causes of odors were studied at Philadelphia's Northeast Water Pollution Control Plant between September 11 and November 25, 2003. Results showed that dimethyl sulfide (DMS) dominated the VOS pool whenever VOS concentration rose above the background level (<50 microg/L). Methanethiol was generally less than 10% of VOS and it was mainly found at sites with limited or reduced dissolved oxygen (DO). Dimethyl disulfide occupied approximately 1% of the VOS and was often not detectable. Carbon disulfide was not detected. The concentrations of DMS varied by three orders of magnitude, ranging from <5 to 1260 microg/L. High concentrations of DMS, averaging 419 and ranging from <5 to 1000 microg/L, were generally found in return activated sludge. The DMS concentration in the primary effluent ranged from <5 to 729 microg/L and averaged 245 microg/L. Concentrations of DMS in the aeration tank (AT) with high DO were from <5 to 997 microg/L with an average of 250 microg/L. However, DMS concentrations in the AT representing anaerobic conditions were as high as 1260 microg/L. The estimated average purge efficiency of DMS was about 78%, which required a DMS production rate of 108 microg/Lh(-1) to keep the analyzed concentration in the AT. While a valid but weak statistical relationship between acetone and DMS was observed, there was no strong evidence to support that the methylation of hydrogen sulfide with acetone could be the mechanism for the DMS formation. Instead, DMS production was found to be associated with the characteristics of incoming wastewater. Thus, a VOS precursor was believed to be present in the incoming wastewater, which warranted a need for further investigation.

Bacteria, Anaerobic↗
PubMed1997

Crash reductions related to traffic signal removal in Philadelphia.

The effect on intersection crashes of converting one-way street intersections in Philadelphia from signal to multiway stop sign control was estimated. Using crash and traffic volume data for a comparison group, regression models were computed to represent the normal crash experience of signal controlled intersections of one-way streets, by impact type, as a function of traffic volume. An empirical Bayesian procedure was used to estimate what would have been the expected number of crashes at the converted intersections had they not been converted. The empirical Bayesian estimates were compared with actual counts of crashes after conversion. Estimates were obtained for different classes of crashes categorized by impact type, day/night condition, and impact severity. Aggregate results indicate that replacing signals by multiway stop signs on one-way streets is associated with a reduction in crashes of approximately 24%, combining all severities, light conditions, and impact types.

Accidents, Traffic↗
PubMed1988

Significance and correlations of molecular analysis results in patients with Philadelphia chromosome-negative chronic myelogenous leukemia and chronic myelomonocytic leukemia.

PURPOSE: Several investigators have documented a rearrangement of the breakpoint cluster region (bcr) in selected patients with a morphologic diagnosis of chronic myelogenous leukemia (CML) but no abnormality of the Philadelphia chromosome (Ph) by cytogenetic studies. Our intention was to systematically investigate the incidence of the bcr rearrangement in such patients, and to correlate the findings with patient characteristics, response to therapy (especially alpha interferon treatment), and overall prognosis. PATIENTS AND METHODS: Molecular analysis studies were performed in 40 patients with Ph-negative CML (23 patients) and myelomonocytic leukemia (CMML; 17 patients). RESULTS: Rearrangement of the breakpoint cluster region (bcr) was detected in 11 of the 23 patients with Ph-negative CML (48 percent), indicating the presence of the abnormal molecular events in Ph-positive CML without documentation of the Ph cytogenetic abnormality. None of the 17 patients with CMML had the bcr rearrangement. Patients with Ph-negative CML and the bcr rearrangement had characteristics similar to those of patients with Ph-positive disease. These included a younger age, higher white blood cell counts, a higher incidence of thrombocytosis and basophilia, and a lower occurrence of thrombocytopenia. The leukocyte alkaline phosphatase score was not a helpful distinguishing feature. Among 21 patients receiving alpha interferon-based regimens, response to therapy was significantly better among patients with Ph-negative disease and the bcr rearrangement (seven of seven, 100 percent), compared with those without the bcr rearrangement (one of six, 17 percent), or patients with CMML (two of eight, 25 percent) (p less than 0.01). At this time of follow-up, only one of the 11 patients with Ph-negative CML and the bcr rearrangement had died from complications of allogeneic bone marrow transplantation, compared with three deaths among the 12 patients with Ph-negative CML and no bcr rearrangement, and 11 deaths among the 19 patients with CMML. CONCLUSION: We conclude that molecular studies help in better understanding the nosology of Ph-negative CML, and define a subgroup of patients with clinical, therapeutic, and prognostic correlations similar to those of patients with Ph-positive CML.

Adolescent↗
PubMedDate not supplied

Funding for consultation-liaison services in public sector-managed care plans. The experience of the Consultation-Liaison Association of Philadelphia.

Recently, the Commonwealth of Pennsylvania initiated plans to implement a mandated behavioral health carve-out program for Medicaid-eligible persons. The Consultation-Liaison Association of Philadelphia (CLAP) discovered that there was no provision for the coverage of psychiatric services for patients with concomitant medical illness. As a result, the authors responded by initiating a series of actions aimed at ensuring inclusion of such services as part of mental health services to be delivered. CLAP developed a brief position paper that includes a description of the need for such services, the types of services typically delivered, the impact of psychiatric input in the medical setting on costs and other outcomes, and a specific set of recommendations. These efforts have lead to the inclusion of consultation-liaison services in the new plan. A description of recent changes in Medicaid, including expansion of managed care plans, the status of mental health carve outs, and the possibility for inclusion of psychiatric consultations for the medically ill within these plans, is detailed.

Behavior Therapy↗
PubMed2002

Coexistence of independent myelodysplastic and Philadelphia chromosome positive clones in a patient treated with hydroxyurea.

We report a patient with Philadelphia chromosome positive (Ph +ve) chronic myelogenous leukemia (CML), treated with hydroxyurea alone, who upon disease progression developed an additional Ph - ve clone containing chromosomal abnormalities typical of myelodysplastic syndrome (MDS). Retrospective analysis of a cryopreserved stem cell specimen from diagnosis confirmed that this second clone developed during the course of treatment. The development of a clone with additional cytogenetic abnormalities in CML has only been reported after leukemogenic treatment, stem cell transplantation or interferon. We report a case of secondary Ph - ve MDS/AML during blast crisis in a patient treated with hydroxyurea for CML.

Aged↗
PubMed2002

Myelodysplastic syndrome in childhood: report of two cases with deletion of chromosome 4 and the Philadelphia chromosome.

We report two pediatric patients with unclassified myelodysplastic syndrome (MDS) by the French-American-British (FAB) group. Both cases had clinical and hematological peculiarities, which had not been described yet. The cytogenetic alterations were 4q deletion and the Philadelphia (Ph) chromosome which appeared at different moments of the disease. One patient showed the Ph chromosome at disease transformation and the other at diagnosis. The different breakpoints at 4q and the presence of Ph could be a marker of this form of MDS. The association of clinical and hematological findings suggests the possibility of a new group of pediatric MDS.

Child, Preschool↗
PubMed1999

Leukemia cell lines: in vitro models for the study of Philadelphia chromosome-positive leukemia.

The Philadelphia (Ph) chromosome, the main product of the (9;22)(q34;q11) translocation, is the cytogenetic hallmark of chronic myeloid leukemia (CML), a clonal myeloproliferative disorder of the hematopoietic stem cell; the Ph chromosome is also found in a sizeable portion of acute lymphoblastic leukemia (ALL) patients and in a small number of acute myeloid leukemia (AML) cases. At the molecular level, the t(9;22) leads to the fusion of the BCR gene (on chromosome 22) to the ABL gene (translocated from chromosome 9); this fusion gene BCR-ABL with its elevated tyrosine kinase activity must to be central to the pathogenesis of these disorders. Three different breakpoint cluster regions are discerned within the BCR gene on chromosome 22: M-bcr, m-bcr, and mu-bcr. Ph + leukemia cell lines are important tools in this research area. More than 20 ALL-and more than 40 CML-derived Ph + leukemia cell lines have been described. Furthermore, three Ph + B-lymphoblastoid cell lines, established from patients with Ph + ALL or CML, are available. Molecular analysis has documented BCR-ABL fusion genes in three apparently Ph chromosome-negative cell lines, all three derived from CML. Nearly all Ph + ALL cell lines have the m-bcr e1-a2 fusion gene (only two ALL cell lines have a b3-a2 fusion) whereas all CML cell lines, but one carry the M-bcr b2-a2, b3-a2 or both hybrids. The mu-bcr e19-a2 has been detected in one CML cell line. Four cell lines display a three-way translocation involving chromosomes 9, 22 and a third chromosome. Additional Ph chromosomes (up to five) have been found in four Ph + ALL cell lines and in 18 CML cell lines; though in some cell lines the extra Ph chromosome(s) might be caused by the polyploidy (tri- and tetraploidy) of the cells. Another modus to acquire additional copies of the BCR-ABL fusion gene is the formation of tandem repeats of the BCR-ABL hybrid as seen in CML cell line K-562. Both mechanisms, selective multiplication of the der(22) chromosome and tandem replication of the fusion gene BCR-ABL, presumably lead to enhanced levels of the fusion protein and its tyrosine kinase activity (genetic dosage effect). The availability of a panel of Ph + cell lines as highly informative leukemia models offers the unique opportunity to analyze the pathobiology of these malignancies and the role of the Ph chromosome in leukemogenesis.

Adult↗
PubMed1999

Establishment of a double Philadelphia chromosome-positive acute lymphoblastic leukemia-derived cell line, TMD5: effects of cytokines and differentiation inducers on growth of the cells.

A double Philadelphia chromosome (Ph)-positive leukemia cell line with common-B cell phenotype, designated TMD5, was established from the blast cells of a patient with double Ph-positive acute lymphoblastic leukemia. TMD5 cells expressed 190 kDa BCR/ABL chimeric protein and 145 kDa ABL protein. The cells proliferated without added growth factors. Autocrine growth mechanism was not recognized. The addition of growth factors such as G-CSF, GM-CSF, IL-3, IL-6, or Stem Cell Factor did not affect the growth. Herbimycin A suppressed the growth of TMD5 cells at the low concentration that did not affect Ph-negative cells. It suppressed tyrosine phosphorylation of intracellular proteins in TMD5 cells. Dexamethasone and dibutyryl cyclic AMP also suppressed the growth. They, however, did not affect the phosphorylation significantly. Neither all-trans retinoic acid nor interferon-alpha affected the growth. TMD5 cells, characterized minutely here and rare in that they have double Ph chromosomes, will be a useful tool for the study of Ph-positive leukemia.

Adult↗
PubMed2001

Chronic myeloid leukemia with a rare variant Philadelphia translocation: t(9;10;22)(q34;q22;q11).

We report a 59-year-old, male, chronic myeloid leukemia patient with a rare variant Philadelphia (Ph) translocation t(9;10;22)(q34;q22;q11). Fluorescence in situ hybridization with whole chromosome paints was used to confirm the cytogenetic findings. With a BCR/ABL-specific probe, the known rearrangement on the derivative chromosome 22 was found. The prognostic implications as well as the relevance of the additional breakpoint region 10q22 are discussed.

Chromosomes, Human, Pair 10↗
PubMed2003

Amplification of the BCR/ABL fusion gene clustered on a masked Philadelphia chromosome in a patient with myeloblastic crisis of chronic myelocytic leukemia.

Although the chronic phase of chronic myelocytic leukemia (CML) is characterized by the Philadelphia (Ph) chromosome creating a hybrid BCR/ABL gene, additional genetic changes involved in blast crisis are poorly understood. We report a 4-8-fold amplification by tandem duplication of the BCR/ABL fusion gene clustered on a masked Ph chromosome in a 61-year-old male patient with CML in myeloblastic crisis. Our finding suggests that the BCR/ABL amplification may play a role as a novel mechanism in the progression to an aggressive blast transformation in some cases of Ph-positive CML.

Fusion Proteins, bcr-abl↗
PubMed2003

Genesis of variant Philadelphia chromosome translocations in chronic myelocytic leukemia.

The Philadelphia (Ph) chromosome is found in more than 90% of chronic myelocytic leukemia (CML) patients. In most cases, it results from the reciprocal t(9;22)(q34;q11), with the ABL proto-oncogene from 9q34 fused to the breakpoint cluster region (BCR) locus on 22q11. In 5%-10% of patients with CML, the Ph chromosome originates from variant translocations, involving various breakpoints in addition to 9q34 and 22q11. In our investigation, three CML cases with complex Ph translocations have been analyzed by G-banding and fluorescence in situ hybridization (FISH). FISH with breakpoint-spanning probes for the BCR and ABL genes revealed information about the genesis of complex Ph translocations. The occurrence of one fusion signal indicates a one-step mechanism (case 1). Two fusion signals indicate a two-step mechanism (case 2). Lack of signals indicates deletions of parts of the BCR and ABL genes or of adjacent regions (case 3).

Adult↗
PubMed2003

Contribution of fluorescence in situ hybridization analyses to the characterization of masked and complex Philadelphia chromosome translocations in chronic myelocytic leukemia.

Bone marrow samples from 112 patients with chronic myelocytic leukemia were investigated using cytogenetic methods. Fluorescent in situ hybridization (FISH) with whole-chromosome paints and BCR-ABL probes was used to confirm and/or complete the banding findings when a variant or a masked Philadelphia chromosome (Ph) translocation was found. Eight variant Ph translocations were identified. Three-way Ph translocations were found in seven patients. Chromosome 4 was involved in two of these cases and chromosomes 3, 11, 14, 17, and 16 in one case each; in the patient with chromosome 16 involvement, a ring of the translocated chromosome 9 was identified, that is r(9)t(9;16;22). The eighth patient had a five-way Ph translocation: t(2;9;16;22;22). The BCR-ABL fusion gene was detected on the Ph chromosome in all eight cases; two cases presented also a deletion of the 5' ABL region on the derivative chromosome 9. In the five-way translocation, the 3' DNA sequence of the ABL oncogene was fused with the 5' DNA sequence of the BCR gene on the Ph chromosome and the 5' end of ABL was inserted into the other chromosome 22. A masked Ph chromosome was identified in one of the 112 patients; it involved the insertion of the 3' ABL into BCR on an apparently normal chromosome 22, resulting in the BCR-ABL fusion gene. In conclusion, FISH analyses allowed not only a more accurate characterization of complex Ph translocations with subtle abnormalities and the identification of cryptic rearrangements, but also the recognition of deletion of the 5' ABL region, which could carry with it a poor prognosis.

Chromosome Painting↗
PubMed1996

Granulocytes with segmented nucleus retain normal chromosomes 17 in Philadelphia chromosome-positive chronic myeloid leukemia with i(17q) and pseudo-Pelger anomaly. A case report studied with fluorescence in situ hybridization.

Previous reports suggested a correlation between the deletion of the terminal region of the short arm of a chromosome 17 and the appearance of dysgranulopoiesis in myeloproliferative disorders. Using the dual-color fluorescence in situ hybridization technique we analyzed the bone marrow and peripheral blood cells of a Philadelphia chromosome-positive chronic myeloid leukemia (CML) patient showing at the onset of transformation into blastic crisis both metaphases with the i(17q) as well as granulocytes without nuclear segmentation. This phenomenon is defined as pseudo-Pelger-Huët anomaly. Using two probes, one specific for 17p and one for 17q, we determined the presence or absence of the i(17q) in both metaphase and interphase cells. Moreover, we observed that all cells with a polysegmented nucleus typical of mature granulocytes did not have i(17q) but had two normal chromosomes 17. This observation confirmed the correlation between 17p deletion and the appearance of pseudo-Pelger anomaly. This finding may also be useful from a clinical point of view: the appearance of pseudo-Pelger cells in CML indicates that 17p deletion actually occurred. This event implies a negative prognosis.

Blast Crisis↗
PubMed1996

Molecular demonstration of BCR/ABL fusion in two cases with chronic myeloproliferative disorder carrying variant Philadelphia t(14;22)(q32;q11).

We report two cases with chronic myeloproliferative disorder which were found to carry simple variant Philadelphia (Ph) t(14;22)(q32;q11) in unstimulated bone marrow mononuclear cells. Both cases were characterized molecularly by Southern blot, reverse transcription-polymerase chain reaction (RT-PCR), and direct sequencing of the RT-PCR products. In the first case (female, aged 65, in blastic transformation which developed one year after the initial diagnosis of myelofibrosis), a t(14;22) (q32;q11) was found in association with several other chromosomal abnormalities [48,XX,+X,+5,del(5) (q12q32),+8,der(9)t(9;11)(q32;q11),-11]; molecular analysis demonstrated the presence of a BCR-ABL chimeric gene and mRNA transcript of the b2-a2 type. In the second case (female, aged 16, with clinical and hematologic features typical of chronic myelogenous leukemia in chronic phase), a t(14;22) (q32;q11) was identified as the sole karyotypic abnormality; again, molecular analysis demonstrated the presence of a BCR-ABL chimeric gene and mRNA transcript, this time of the b3-a2 type. Our findings further support the notion that, even when undetectable by conventional cytogenetics, band 9q34 participates in all Ph chromosomes and leads to the formation of chimeric BCR-ABL genes.

Adolescent↗
PubMed1998

Occurrence of BCR-ABL rearrangement in a Philadelphia chromosome-negative patient with 5q and 13q deletions and myeloproliferative syndrome.

We report the case of a patient with a myeloproliferative syndrome and traits of myelodysplasia and myelofibrosis whose karyotype showed 5q and 13q deletions, as well as Philadelphia chromosome negativity. A molecular biology study performed by Southern blot, with a probe covering the M-bcr region, led to detection of three bands other than the germinal ones, which hints at the possible existence of two cut points in the M-bcr region of an allele, or participation of both alleles. The patient presented a complex hematological picture, which might be explained on the basis of the cytogenetic and molecular findings.

Blotting, Southern↗
PubMed1998

The Philadelphia chromosome as a secondary change in leukemia: three case reports and an overview of the literature.

Three cases of acute nonlymphocytic leukemia with a Philadelphia chromosome (Ph) as a secondary abnormality are reported. The Ph was late-appearing in one patient and appeared as an additional anomaly in the other two patients. Fluorescence in situ hybridization studies of the first patient identified the presence of a minor BCR/ABL rearrangement. The findings of these cases support the conclusion that the Ph plays a role not only in leukemogenesis, but also in disease progression. An overview of the literature dealing with similar cases is also presented.

Adolescent↗
PubMed1998

Molecular genetic characterization of the Philadelphia chromosome detected in reactor personnel highly exposed to radiation from the Chernobyl accident.

Clonal del(22q) chromosome aberrations were coincidentally observed in highly exposed reactor personnel of the Chernobyl power plant accident in the course of retrospective biological dosimetry. These aberrant chromosomes were detected in PHA-stimulated cultures from peripheral blood after FPG staining and revealed a morphology similar to a Philadelphia chromosome. A rearrangement of the BCR gene on 22q11 could be confirmed in unstimulated peripheral blood by RFLP analysis from three of four del(22q) carrying cases. FISH analysis of the del(22q) carrying cases with BCR- and ABL-specific DNA probes additionally exhibited a BCR-ABL fusion in 5.2 to 9% of cells in unstimulated blood. Breakpoints within the BCR gene could be located either in the M-bcr or the m-bcr region and thus, a specific breakpoint region could not be detected in these four patients. Since typical clinical leukemic symptoms associated with the translocation (9;22)(q24;q11) could not be observed in these highly irradiated subjects (1.1 to 5.8 Gy), the role of this particular aberration in the development of a radiation-induced leukemia remains obscure.

Chromosome Deletion↗
PubMed1999

Amplification of BCR-ABL rearrangement in atypical Philadelphia chromosome: a new variant detected by fluorescence in situ hybridization in one case of acute lymphoblastic leukemia.

We report on a 67-year-old woman with acute lymphoblastic leukemia (ALL) who was supposed to have a variant Philadelphia (Ph) translocation identified by conventional cytogenetic techniques. Fluorescence in situ hybridization (FISH) analysis demonstrated the presence of an amplification of BCR-ABL rearrangement at locus 22q11. This is the first observation, to our knowledge, of a duplicated BCR-ABL chimeric gene within the derived chromosome 22 in ALL. Our observation supports the possibility of detecting a variant Ph chromosome at the single-cell level by FISH analysis.

Aged↗