[The molecular-cytogenetic characterization and tyrosine kinase inhibitors efficacy in newly diagnosed chronic phase CML patients with variant Philadelphia chromosomes].

PubMed

Zhao, J J; Zhang, Y L; Zhang, S J; Zhou, J; Yu, F K; Zu, Y L; Zhao, H F; Li, Z; Song, Y P

2018-03-14

Objective: To investigate the molecular-cytogenetic characterization and impact on tyrosine kinase inhibitors (TKIs) therapy in chronic phase of chronic myeloid leukemia (CML-CP) patients with variant Ph chromosome (vPh). Methods: The clinical data of 32 patients with vPh chromosomes were collected and compared with 703 patients with typical Ph chromosome in newly diagnosed CML-CP who were on first-line imatinib (IM) and with BCR-ABL transcript of P210. Results: There was no significant difference in demographic and hematological characteristics between vPh and classic Ph patients. 3(9.4%) of the 32 vPh cases were simple variant translocations. Among the remaining 29 cases with complex variant translocations, 28 cases (87.5%) involved 3 chromosomes, and only 1 (3.1%) involved 4 chromosomes. Except for 8, 15, 18, X, and Y chromosomes, the other chromosomes were involved. The frequency of chromosome 12q(15.5%) and 1p (12.1%) were higher involved. The most common FISH signal pattern was 2G2R1Y (74.1%), followed by 1G1R2F (14.8%), 2G1R1Y (3.7%), 1G2R1Y (3.7%), 1G1R1Y (3.7%). The comparison of complete cytogenetic response (CCyR) ( P =0.269), major molecular response (MMR) ( P =0.391) were carried out between simple and complex mechanisms, without difference. Compared with the classic Ph, the patients with vPh had higher IM primary resistance rate ( χ 2 =3.978, P =0.046), especially primary hematological resistance ( χ 2 =7.870, P =0.005), but the difference of CCyR ( χ 2 =0.192, P =0.661), MMR ( χ 2 =0.822, P =0.365), EFS ( χ 2 =0.509, P =0.476), OS ( χ 2 =3.485, P =0.062) were not statistically significant, and multivariate analysis showed that the presence of vPh did not affect OS ( RR =0.692, 95% CI 0.393-1.765, P =0.658)、EFS ( RR =0.893, 95% CI 0.347-2.132, P =0.126) and PFS ( RR =1.176, 95% CI 0.643-2.682, P =0.703). Conclusion: CML-CP patients with vPh and classic Ph had similar demographic and hematological characteristics. Except for 22q11, 9q34, the

Philadelphia chromosome-negative myeloproliferative disorders: biology and treatment.

PubMed

Hoffman, Ronald; Prchal, Josef T; Samuelson, Scott; Ciurea, Stefan O; Rondelli, Damiano

2007-01-01

The Philadelphia chromosome (Ph)-negative myeloproliferative disorders (MPDs) include essential thrombocythemia (ET), idiopathic myelofibrosis (IMF), and polycythemia vera (PV). All of these disorders are clonal hematologic malignancies originating at the level of the pluripotent hematopoietic stem cell. Recently, activating mutations of the intracellular cytokine-signaling molecule JAK2 have been identified in > 90% of patients with PV and in 50% of those with IMF and ET. In addition, a mutation of the thrombopoietin receptor, MPLW515L, has been documented in some patients with IMF. Both mutations activate JAK-STAT signaling pathways and likely play a role in disease progression. Both ET and PV are associated with prolonged clinical courses associated with frequent thrombotic and hemorrhagic events, and progression to myelofibrosis and acute leukemia. IMF has a much poorer prognosis and is associated with cytopenias, splenomegaly, extramedullary hematopoiesis, and bone marrow fibrosis. Stratification of risk for the development of complications from Ph-negative MPDs has guided the identification of appropriate therapies for this population. Intermediate/high-risk IMF or myelofibrosis after ET or PV is associated with a sufficiently poor prognosis to justify the use of allogeneic stem cell transplantation, which is capable of curing such patients. Reduced-intensity conditioning in preparation for allogeneic stem cell transplantation has permitted older patients with IMF to undergo transplantation with increasing success.

Familial translocation involving chromosomes 1 and 9 in a patient with Philadelphia-positive CML

DOE Office of Scientific and Technical Information (OSTI.GOV)

Rehman, K.; Rosner, F.; Shanske, A.

1994-09-01

CML has provided a model for understanding the genetic basis of neoplasia. Approximately 5% of Philadelphia-positive patients have a variant chromosome rearrangement. We recently evaluated a patient with a previously unreported simple variant translocation that is part of a familial rearrangement. He had a constitutional translocation, t(1;9)(p21;p22), which was initially identified after his wife had a routine amniocentesis. Case report: K.H. was a 54-year-old male with CML for 4 years. He had been treated until recently with hydroxyurea. An abnormal male karyotype, 46,XY,t(1;9)(q21;p22),t(9;22)(q34;q11) was recorded from an unstimulated blood sample soon after diagnosis. Both translocations involved the same number 9more » homologue resulting in a derivative 9(1pter{r_arrow}1q21::9p22{r_arrow}9q34::22q11{r_arrow}22qter). A recent CT scan of the chest showed a lytic lesion of a rib with associated soft tissue mass in the right costo-vertebral angle. He was hospitalized for progressive pain in the right lower chest and fever, treated for a UTI, required multiple transfusions for declining hemoglobin and platelets and died shortly thereafter. Autopsy revealed widespread chloromas as part of terminal CML. At least 13 complex rearrangements involving chromosomes 1, 9 and 22 are known. Our case represents a unique rearrangement with a familial component and also unique breakpoints for a Philadelphia variant. In line with the current view of cancer as a clonal disorder, perhaps the constitutional translocation contributed to the multi-step nature of the malignant transformation. In fact, a number of cancer-specific breakpoints in both regions of 1p and 9p are involved in the familial translocation.« less

23. North Philadelphia Station. Philadelphia, Philadelphia Co., PA. Sec. 1101, ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

23. North Philadelphia Station. Philadelphia, Philadelphia Co., PA. Sec. 1101, MP 84.55. - Northeast Railroad Corridor, Amtrak route between Delaware-Pennsylvania & Pennsylvania-New Jersey state lines, Philadelphia, Philadelphia County, PA

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

PubMed

Gargallo, Patricia M; Cuello, Maria Teresa; Aranguren, Pedro Negri; Larripa, Irene B

2003-06-01

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.

Frequency and prognostic significance of additional cytogenetic abnormalities to the Philadelphia chromosome in young and older adults with acute lymphoblastic leukemia.

PubMed

Motlló, Cristina; Ribera, Josep-Maria; Morgades, Mireia; Granada, Isabel; Montesinos, Pau; Mercadal, Santiago; González-Campos, José; Moreno, María-José; Barba, Pere; Cervera, Marta; Barrios, Manuel; Novo, Andrés; Bernal, Teresa; Hernández-Rivas, Jesús-María; Abella, Eugenia; Amigo, María-Luz; Tormo, Mar; Martino, Rodrigo; Lavilla, Esperanza; Bergua, Juan; Serrano, Alfons; García-Belmonte, Daniel; Guàrdia, Ramon; Grau, Javier; Feliu, Evarist

2018-01-01

About 25-35% of adult patients with acute lymphoblastic leukemia show the Philadelphia (Ph) chromosome. Few series have evaluated the prognosis of additional cytogenetic alterations (ACA) to the Ph chromosome. We analyzed the frequency, type and prognostic significance ofACA in adults (18-60 years) treated in the ALL-Ph-08 trial. Fifty-two out of 74 patients (70%) showed ACA and 19 (26%) presented monosomies associated with t(9;22) (monosomal karyotype, MK). Similar complete response (CR) rate, CR duration, overall survival and event-free survival (EFS) were observed in patients with or without ACA, but patients with MK showed shorter CR duration and EFS than the remaining. On multivariate analysis, the only variable with prognostic impact for CR duration and EFS was the presence of MK (p = .003 and p = .036, respectively). Although ACA associated with the Ph chromosome are frequent, only monosomies were associated with poor prognosis in this group of patients.

Therapeutic and prognostic value of modal number of chromosomes at the blastic phase of Philadelphia-chromosome-positive chronic myeloid leukemia: comparison based on the same criteria between Nagasaki University and Roswell Park Memorial Institute.

PubMed

Sadamori, N; Yao, E; Mine, M; Tokunaga, S; Matsunaga, M; Nakamura, H; Sasagawa, I; Itoyama, T; Hayashibara, T; Sandberg, A A

1992-01-01

In a comparison of 47 patients with Philadelphia-chromosome (Ph)-positive chronic myeloid leukemia (CML) in the Nagasaki University School of Medicine and 64 patients with the same disease in the Roswell Park Memorial Institute, the correlation between the modal number of chromosomes and the therapeutic response and/or survival after the onset of the blastic phase (BP) was evaluated. The patients were divided into four groups on the basis of the modal number of chromosomes of the cells in the bone marrow: those with hypodiploidy (group 1), those with pseudodiploidy carrying a Ph chromosome (group 2), those with 47 chromosomes (group 3), and those with 48 or more chromosomes (group 4). The results revealed similar trends in the two institutes. Namely, the therapeutic response and the survival after the onset of the BP in groups 1 and 4 were more unfavorable and shorter than those in groups 2 and 3, although the former (group 2) had a better prognosis than the latter (group 3). Thus, the statistical analysis revealed that the numerical chromosome findings at the BP are useful parameters for assessing the therapeutic response and survival after the onset of the BP of CML.

7. B & O RAILROAD BRIDGE. PHILADELPHIA, PHILADELPHIA CO., PA. ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

7. B & O RAILROAD BRIDGE. PHILADELPHIA, PHILADELPHIA CO., PA. Sec. 1101, MP 3.11. - Northeast Railroad Corridor, Amtrak route between Delaware-Pennsylvania & Pennsylvania-New Jersey state lines, Philadelphia, Philadelphia County, PA

6. B & O RAILROAD BRIDGE. PHILADELPHIA, PHILADELPHIA CO., PA. ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

6. B & O RAILROAD BRIDGE. PHILADELPHIA, PHILADELPHIA CO., PA. Sec. 1101, MP 3.11. - Northeast Railroad Corridor, Amtrak route between Delaware-Pennsylvania & Pennsylvania-New Jersey state lines, Philadelphia, Philadelphia County, PA

Involvement of mast cells by the malignant process in patients with Philadelphia chromosome negative myeloproliferative neoplasms.

PubMed

Wang, J; Ishii, T; Zhang, W; Sozer, S; Dai, Y; Mascarenhas, J; Najfeld, V; Zhao, Z J; Hoffman, R; Wisch, N; Xu, M

2009-09-01

The Philadelphia chromosome negative myeloproliferative neoplasms (MPNs) are clonal hematologic malignancies frequently characterized by a mutation in JAK2 (JAK2V617F). Peripheral blood (PB) CD34(+) cells from patients with polycythemia vera (PV) and primary myelofibrosis (PMF) generated in vitro significantly fewer mast cells (MCs) than normal PB CD34(+) cells. The numbers of MC progenitors assayed from MPN CD34(+) cells were, however, similar to that assayed from normal CD34(+) cells. A higher percentage of the cultured MPN MCs expressed FcvarepsilonRIalpha, CD63 and CD69 than normal MCs, suggesting that cultured MPN MCs are associated with an increased state of MC activation. Further analysis showed that a higher proportion of cultured PV and PMF MCs underwent apoptosis in vitro. By using JAK2V617F, MplW515L and chromosomal abnormalities as clonality markers, we showed that the malignant process involved MPN MCs. JAK2V617F-positive MC colonies were assayable from the PB CD34(+) cells of each of the 17 JAK2V617F positive MPN patients studied. Furthermore, erlotinib, a JAK2 inhibitor, was able to inhibit JAK2V617F-positive PV MC progenitor cells, indicating that malignant MC progenitor cells are a potential cellular target for such JAK2 inhibitor-directed therapy.

Treating relapsed or refractory Philadelphia chromosome-negative acute lymphoblastic leukemia: liposome-encapsulated vincristine

PubMed Central

Davis, Tyler; Farag, Sherif S

2013-01-01

Acute lymphoblastic leukemia (ALL) remains a disease with poor outcomes in adults. While induction chemotherapy achieves a complete remission in almost 90% of patients, the majority will relapse and die of their disease. Relapsed ALL is associated with a high reinduction mortality and chemotherapy resistance, with allogeneic hematopoietic stem cell transplantation offering the only therapy with curative potential. However, there is no efficacious and well tolerated standard regimen accepted as a “bridge” to allogeneic stem cell transplantation or as definitive treatment for patients who are not transplant candidates. Vincristine is an active drug in patients with ALL, but its dose intensity is limited by neurotoxicity, and its full potential as an anticancer drug is thus not realized. Encapsulation of vincristine into sphingomyelin and cholesterol nanoparticle liposomes facilitates dose-intensification and densification to enhanced target tissues with reduced potential for toxicity. Vincristine sulfate liposome injection (VSLI) is associated with significant responses in clinically advanced ALL, and has recently been approved by the US Food and Drug Administration for treatment of relapsed and clinically advanced Philadelphia chromosome-negative ALL. This review provides an overview of the preclinical and clinical studies leading to the approval of VSLI for the treatment of relapsed and refractory ALL, and suggests potential areas of future clinical development. PMID:24072970

View northeast; interior structural detail Naval Base PhiladelphiaPhiladelphia Naval ...

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View northeast; interior structural detail - Naval Base Philadelphia-Philadelphia Naval Shipyard, Foundry-Propeller Shop, North of Porter Avenue, west of Third Street West, Philadelphia, Philadelphia County, PA

View northwest; south and east facades Naval Base PhiladelphiaPhiladelphia ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

View northwest; south and east facades - Naval Base Philadelphia-Philadelphia Naval Shipyard, Foundry-Propeller Shop, North of Porter Avenue, west of Third Street West, Philadelphia, Philadelphia County, PA

View southwest; north and east facades Naval Base PhiladelphiaPhiladelphia ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

View southwest; north and east facades - Naval Base Philadelphia-Philadelphia Naval Shipyard, Foundry-Propeller Shop, North of Porter Avenue, west of Third Street West, Philadelphia, Philadelphia County, PA

Predictive value of minimal residual disease in Philadelphia-chromosome-positive acute lymphoblastic leukemia treated with imatinib in the European intergroup study of post-induction treatment of Philadelphia-chromosome-positive acute lymphoblastic leukemia, based on immunoglobulin/T-cell receptor and BCR/ABL1 methodologies

PubMed Central

Cazzaniga, Giovanni; De Lorenzo, Paola; Alten, Julia; Röttgers, Silja; Hancock, Jeremy; Saha, Vaskar; Castor, Anders; Madsen, Hans O.; Gandemer, Virginie; Cavé, Hélène; Leoni, Veronica; Köhler, Rolf; Ferrari, Giulia M.; Bleckmann, Kirsten; Pieters, Rob; van der Velden, Vincent; Stary, Jan; Zuna, Jan; Escherich, Gabriele; zur Stadt, Udo; Aricò, Maurizio; Conter, Valentino; Schrappe, Martin; Valsecchi, Maria Grazia; Biondi, Andrea

2018-01-01

The prognostic value of minimal residual disease (MRD) in Philadelphia-chromosome-positive (Ph+) childhood acute lymphoblastic leukemia (ALL) treated with tyrosine kinase inhibitors is not fully established. We detected MRD by real-time quantitative polymerase chain reaction (RQ-PCR) of rearranged immunoglobulin/T-cell receptor genes (IG/TR) and/or BCR/ABL1 fusion transcript to investigate its predictive value in patients receiving Berlin-Frankfurt-Münster (BFM) high-risk (HR) therapy and post-induction intermittent imatinib (the European intergroup study of post-induction treatment of Philadelphia-chromosome-positive acute lymphoblastic leukemia (EsPhALL) study). MRD was monitored after induction (time point (TP)1), consolidation Phase IB (TP2), HR Blocks, reinductions, and at the end of therapy. MRD negativity progressively increased over time, both by IG/TR and BCR/ABL1. Of 90 patients with IG/TR MRD at TP1, nine were negative and none relapsed, while 11 with MRD<5×10−4 and 70 with MRD≥5×10−4 had a comparable 5-year cumulative incidence of relapse of 36.4 (15.4) and 35.2 (5.9), respectively. Patients who achieved MRD negativity at TP2 had a low relapse risk (5-yr cumulative incidence of relapse (CIR)=14.3[9.8]), whereas those who attained MRD negativity at a later date showed higher CIR, comparable to patients with positive MRD at any level. BCR/ABL1 MRD negative patients at TP1 had a relapse risk similar to those who were IG/TR MRD negative (1/8 relapses). The overall concordance between the two methods is 69%, with significantly higher positivity by BCR/ABL1. In conclusion, MRD monitoring by both methods may be functional not only for measuring response but also for guiding biological studies aimed at investigating causes for discrepancies, although from our data IG/TR MRD monitoring appears to be more reliable. Early MRD negativity is highly predictive of favorable outcome. The earlier MRD negativity is achieved, the better the prognosis. PMID

20. Zoo Substation. Philadelphia, Philadelphia Co., PA. Sec. 1101, MP ...

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20. Zoo Substation. Philadelphia, Philadelphia Co., PA. Sec. 1101, MP 87.25. - Northeast Railroad Corridor, Amtrak route between Delaware-Pennsylvania & Pennsylvania-New Jersey state lines, Philadelphia, Philadelphia County, PA

28. Poquessing Creek Bridge. Philadelphia, Philadelphia Co., PA. Sec. 1101, ...

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28. Poquessing Creek Bridge. Philadelphia, Philadelphia Co., PA. Sec. 1101, MP 74.20. - Northeast Railroad Corridor, Amtrak route between Delaware-Pennsylvania & Pennsylvania-New Jersey state lines, Philadelphia, Philadelphia County, PA

22. Schuylkill River Bridge. Philadelphia, Philadelphia Co., PA. Sec. 1101, ...

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22. Schuylkill River Bridge. Philadelphia, Philadelphia Co., PA. Sec. 1101, MP 87.14. - Northeast Railroad Corridor, Amtrak route between Delaware-Pennsylvania & Pennsylvania-New Jersey state lines, Philadelphia, Philadelphia County, PA

27. Pennypack Creek Bridge. Philadelphia, Philadelphia Co., PA. Sec. 1101, ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

27. Pennypack Creek Bridge. Philadelphia, Philadelphia Co., PA. Sec. 1101, MP 76.70. - Northeast Railroad Corridor, Amtrak route between Delaware-Pennsylvania & Pennsylvania-New Jersey state lines, Philadelphia, Philadelphia County, PA

21. Schuylkill River Bridge. Philadelphia, Philadelphia Co., PA. Sec. 1101, ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

21. Schuylkill River Bridge. Philadelphia, Philadelphia Co., PA. Sec. 1101, MP 87.14. - Northeast Railroad Corridor, Amtrak route between Delaware-Pennsylvania & Pennsylvania-New Jersey state lines, Philadelphia, Philadelphia County, PA

18. Pennsylvania Railroad: Brick Arch Viaduct. Philadelphia, Philadelphia Co., PA. ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

18. Pennsylvania Railroad: Brick Arch Viaduct. Philadelphia, Philadelphia Co., PA. Sec. 1101, MP 87.44. - Northeast Railroad Corridor, Amtrak route between Delaware-Pennsylvania & Pennsylvania-New Jersey state lines, Philadelphia, Philadelphia County, PA

19. Pennsylvania Railroad: Brick Arch Viaduct. Philadelphia, Philadelphia Co., PA. ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

19. Pennsylvania Railroad: Brick Arch Viaduct. Philadelphia, Philadelphia Co., PA. Sec. 1101, MP 87.44. - Northeast Railroad Corridor, Amtrak route between Delaware-Pennsylvania & Pennsylvania-New Jersey state lines, Philadelphia, Philadelphia County, PA

24. Elevated SEPTA subway Bridge crossing NEC. Philadelphia, Philadelphia Co., ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

24. Elevated SEPTA subway Bridge crossing NEC. Philadelphia, Philadelphia Co., PA. Sec. 1101, MP 81.69. - Northeast Railroad Corridor, Amtrak route between Delaware-Pennsylvania & Pennsylvania-New Jersey state lines, Philadelphia, Philadelphia County, PA

26. Elevated SEPTA subway Bridge crossing NEC. Philadelphia, Philadelphia Co., ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

26. Elevated SEPTA subway Bridge crossing NEC. Philadelphia, Philadelphia Co., PA. Sec. 1101, MP 81.69. - Northeast Railroad Corridor, Amtrak route between Delaware-Pennsylvania & Pennsylvania-New Jersey state lines, Philadelphia, Philadelphia County, PA

25. Elevated SEPTA subway Bridge crossing NEC. Philadelphia, Philadelphia Co., ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

25. Elevated SEPTA subway Bridge crossing NEC. Philadelphia, Philadelphia Co., PA. Sec. 1101, MP 81.69. - Northeast Railroad Corridor, Amtrak route between Delaware-Pennsylvania & Pennsylvania-New Jersey state lines, Philadelphia, Philadelphia County, PA

The Functional Interplay Between the t(9;22)-Associated Fusion Proteins BCR/ABL and ABL/BCR in Philadelphia Chromosome-Positive Acute Lymphatic Leukemia

PubMed Central

Rafiei, Anahita; Mian, Afsar Ali; Döring, Claudia; Metodieva, Anna; Oancea, Claudia; Thalheimer, Frederic B.; Hansmann, Martin Leo; Ottmann, Oliver Gerhard; Ruthardt, Martin

2015-01-01

The hallmark of Philadelphia chromosome positive (Ph+) leukemia is the BCR/ABL kinase, which is successfully targeted by selective ATP competitors. However, inhibition of BCR/ABL alone is unable to eradicate Ph+ leukemia. The t(9;22) is a reciprocal translocation which encodes not only for the der22 (Philadelphia chromosome) related BCR/ABL, but also for der9 related ABL/BCR fusion proteins, which can be detected in 65% of patients with chronic myeloid leukemia (CML) and 100% of patients with Ph+ acute lymphatic leukemia (ALL). ABL/BCRs are oncogenes able to influence the lineage commitment of hematopoietic progenitors. Aim of this study was to further disclose the role of p96ABL/BCR for the pathogenesis of Ph+ ALL. The co-expression of p96ABL/BCR enhanced the kinase activity and as a consequence, the transformation potential of p185BCR/ABL. Targeting p96ABL/BCR by RNAi inhibited growth of Ph+ ALL cell lines and Ph+ ALL patient-derived long-term cultures (PD-LTCs). Our in vitro and in vivo stem cell studies further revealed a functional hierarchy of p96ABL/BCR and p185BCR/ABL in hematopoietic stem cells. Co-expression of p96ABL/BCR abolished the capacity of p185BCR/ABL to induce a CML-like disease and led to the induction of ALL. Taken together our here presented data reveal an important role of p96ABL/BCR for the pathogenesis of Ph+ ALL. PMID:25919613

Ponatinib in the leukemia world: why a reevaluation is necessary for Philadelphia chromosome-positive patients with T315I mutation.

PubMed

Goodrich, Angelina Daisy

2014-10-01

Strategic drug design is used to meet the needs of numerous diseases for which there is no other recourse. Take the T315I mutation, for example, which occurs in Philadelphia chromosome-positive leukemias and renders all currently available tissue kinase inhibitors useless. The US FDA therefore saw it fit to avail ponatinib, the therapeutic result of careful drug design, to patients based on early data. However, its sales and marketing were later suspended due to emerging safety concerns. This drug has now returned to market albeit with tighter labeling. While the lesson for early approvals may be to restrict the drug to as narrow a patient population as possible, the potential benefits of this drug for the target population must not be lost amidst the controversy.

Uncovering Clinical Features of De Novo Philadelphia Positive Myelodysplasia.

PubMed

Armas, Aristides; Chen, Chen; Mims, Martha; Rivero, Gustavo

2017-01-01

Myelodysplastic syndrome (MDS) is cytogenetically heterogeneous and retains variable risk for acute myeloid leukemia transformation. Though not yet fully understood, there is an association between genetic abnormalities and defects in gene expression. The functional role for infrequent cytogenetic alteration remains unclear. An uncommon chromosomic abnormality is the presence of the Philadelphia (Ph) chromosome. Here, we report a patient with Ph+ MDS treated with low dose Dasatinib who achieved hematologic response for 7 months. In addition, we also examined the English literature on all de novo Ph + MDS cases between 1996 and 2015 to gain insight into clinical features and outcome.

Uncovering Clinical Features of De Novo Philadelphia Positive Myelodysplasia

PubMed Central

Armas, Aristides; Chen, Chen; Mims, Martha

2017-01-01

Myelodysplastic syndrome (MDS) is cytogenetically heterogeneous and retains variable risk for acute myeloid leukemia transformation. Though not yet fully understood, there is an association between genetic abnormalities and defects in gene expression. The functional role for infrequent cytogenetic alteration remains unclear. An uncommon chromosomic abnormality is the presence of the Philadelphia (Ph) chromosome. Here, we report a patient with Ph+ MDS treated with low dose Dasatinib who achieved hematologic response for 7 months. In addition, we also examined the English literature on all de novo Ph + MDS cases between 1996 and 2015 to gain insight into clinical features and outcome. PMID:28321349

11. Pennsylvania Railroad: 30th Street Station. Philadelphia, Philadelphia Co., PA. ...

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11. Pennsylvania Railroad: 30th Street Station. Philadelphia, Philadelphia Co., PA. Sec. 1101, MP 88.10. - Northeast Railroad Corridor, Amtrak route between Delaware-Pennsylvania & Pennsylvania-New Jersey state lines, Philadelphia, Philadelphia County, PA

12. Pennsylvania Railroad: 30th Street Station. Philadelphia, Philadelphia Co., PA. ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

12. Pennsylvania Railroad: 30th Street Station. Philadelphia, Philadelphia Co., PA. Sec. 1101, MP 88.10. - Northeast Railroad Corridor, Amtrak route between Delaware-Pennsylvania & Pennsylvania-New Jersey state lines, Philadelphia, Philadelphia County, PA

16. Pennsylvania Railroad: 30th Street Station. Philadelphia, Philadelphia Co., PA. ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

16. Pennsylvania Railroad: 30th Street Station. Philadelphia, Philadelphia Co., PA. Sec. 1101, MP 88.10. - Northeast Railroad Corridor, Amtrak route between Delaware-Pennsylvania & Pennsylvania-New Jersey state lines, Philadelphia, Philadelphia County, PA

9. Pennsylvania Railroad: 30th Street Station. Philadelphia, Philadelphia Co., PA. ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

9. Pennsylvania Railroad: 30th Street Station. Philadelphia, Philadelphia Co., PA. Sec. 1101, MP 88.10. - Northeast Railroad Corridor, Amtrak route between Delaware-Pennsylvania & Pennsylvania-New Jersey state lines, Philadelphia, Philadelphia County, PA

10. Pennsylvania Railroad: 30th Street Station. Philadelphia, Philadelphia Co., PA. ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

10. Pennsylvania Railroad: 30th Street Station. Philadelphia, Philadelphia Co., PA. Sec. 1101, MP 88.10. - Northeast Railroad Corridor, Amtrak route between Delaware-Pennsylvania & Pennsylvania-New Jersey state lines, Philadelphia, Philadelphia County, PA

14. Pennsylvania Railroad: 30th Street Station. Philadelphia, Philadelphia Co., PA. ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

14. Pennsylvania Railroad: 30th Street Station. Philadelphia, Philadelphia Co., PA. Sec. 1101, MP 88.10. - Northeast Railroad Corridor, Amtrak route between Delaware-Pennsylvania & Pennsylvania-New Jersey state lines, Philadelphia, Philadelphia County, PA

15. Pennsylvania Railroad: 30th Street Station. Philadelphia, Philadelphia Co., PA. ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

15. Pennsylvania Railroad: 30th Street Station. Philadelphia, Philadelphia Co., PA. Sec. 1101, MP 88.10. - Northeast Railroad Corridor, Amtrak route between Delaware-Pennsylvania & Pennsylvania-New Jersey state lines, Philadelphia, Philadelphia County, PA

13. Pennsylvania Railroad: 30th Street Station. Philadelphia, Philadelphia Co., PA. ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

13. Pennsylvania Railroad: 30th Street Station. Philadelphia, Philadelphia Co., PA. Sec. 1101, MP 88.10. - Northeast Railroad Corridor, Amtrak route between Delaware-Pennsylvania & Pennsylvania-New Jersey state lines, Philadelphia, Philadelphia County, PA

17. Pennsylvania Railroad: 30th Street Station. Philadelphia, Philadelphia Co., PA. ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

17. Pennsylvania Railroad: 30th Street Station. Philadelphia, Philadelphia Co., PA. Sec. 1101, MP 88.10. - Northeast Railroad Corridor, Amtrak route between Delaware-Pennsylvania & Pennsylvania-New Jersey state lines, Philadelphia, Philadelphia County, PA

8. Pennsylvania Railroad: 30th Street Station Powerhouse. Philadelphia, Philadelphia Co., ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

8. Pennsylvania Railroad: 30th Street Station Powerhouse. Philadelphia, Philadelphia Co., PA. Sec. 1101, MP 88.11. - Northeast Railroad Corridor, Amtrak route between Delaware-Pennsylvania & Pennsylvania-New Jersey state lines, Philadelphia, Philadelphia County, PA

CD20 positivity and white blood cell count predict treatment outcomes in Philadelphia chromosome-negative acute lymphoblastic leukemia patients ineligible for pediatric-inspired chemotherapy.

PubMed

Isshiki, Yusuke; Ohwada, Chikako; Sakaida, Emiko; Onoda, Masahiro; Aotsuka, Nobuyuki; Tanaka, Hiroaki; Fukazawa, Motoharu; Cho, Ryuko; Sugawara, Takeaki; Kawaguchi, Takeharu; Hara, Satoru; Yokota, Akira

2017-11-01

The efficacy of conventional chemotherapy and allogeneic hematopoietic stem cell transplantation (allo-HSCT) has been controversial as post-remission therapies for adult Philadelphia chromosome-negative acute lymphoblastic leukemia patients. We retrospectively analyzed 96 adolescent and adult cases of Philadelphia chromosome-negative acute lymphoblastic leukemia to evaluate whether allo-HSCT should be performed after first complete remission (1CR). In total, 34 patients received chemotherapy followed by allo-HSCT (HSCT group) and 62 received chemotherapy alone (chemotherapy group). No significant differences in the event-free survival (EFS) or overall survival were observed between the two groups. In the chemotherapy group, use of pediatric regimens was significantly associated with favorable EFS, while high white blood cell (WBC) count and CD20 positivity were associated with poor outcome. In patients who received pediatric regimens, subsequent allo-HSCT did not influence EFS. In patients who received conventional chemotherapy (adult regimen), subsequent allo-HSCT did not improve EFS. High WBC count and CD20 positivity were also significantly associated with poor EFS in patients who received adult regimens. Patients with low WBC count and absence of CD20 who received adult regimens did not benefit from allo-HSCT. Allo-HSCT may not be required in the pediatric regimen-eligible patients; however, pediatric regimen-ineligible patients with either CD20 positivity or high WBC count should receive allo-HSCT after achieving 1CR. This study was registered at http://www.umin.ac.jp/ctr/ as #C000016287. © The Author 2017. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com

Prenatally diagnosed de novo apparently balanced complex chromosome rearrangements: Two new cases and review of the literature

DOE Office of Scientific and Technical Information (OSTI.GOV)

Ruiz, C.; Grubs, R.E.; Jewett, T.

Complex chromosome rearrangements (CCR) are rare structural rearrangements. Currently six cases of prenatally diagnosed balanced de novo CCR have been described. We present two new cases of prenatally ascertained balanced de novo CCR. In the first case, an amniocentesis revealed a balanced de novo three-way CCR involving chromosomes 5,6, and 11 with a pericentric inversion of chromosome 5 [four breaks]. In the second case a balanced de novo rearrangement was identified by amniocentesis which involved a reciprocal translocation between chromosomes 3 and 8 and a CCR involving chromosomes 6,7, and 18 [six breaks]. The use of whole chromosome painting helpedmore » elucidate the nature of these rearrangements. A review of the postnatally ascertained cases suggests that most patients have congenital anomalies, minor anomalies, and/or developmental delay/mental retardation. In addition, there appears to be a relationship between the number of chromosome breaks and the extent of phenotypic effects. The paucity of information regarding prenatally diagnosed CCR and the bias of ascertainment of postnatal CCR cases poses a problem in counseling families. 38 refs., 3 figs., 4 tabs.« less

Pre-clinical evidence of PIM kinase inhibitor activity in BCR-ABL1 unmutated and mutated Philadelphia chromosome-positive (Ph+) leukemias

PubMed Central

Curi, Dany A.; Beauchamp, Elspeth M.; Blyth, Gavin T.; Arslan, Ahmet Dirim; Donato, Nicholas J.; Giles, Francis J.; Altman, Jessica K.; Platanias, Leonidas C.

2015-01-01

We investigated the efficacy of targeting the PIM kinase pathway in Philadelphia chromosome-positive (Ph+) leukemias. We provide evidence that inhibition of PIM, with the pan-PIM inhibitor SGI-1776, results in suppression of classic PIM effectors and also elements of the mTOR pathway, suggesting interplay between PIM and mTOR signals. Our data demonstrate that PIM inhibition enhances the effects of imatinib mesylate on Ph+ leukemia cells. We also found that PIM inhibition results in suppression of leukemic cell proliferation and induction of apoptosis of Ph+ leukemia cells, including those resistant to imatinib mesylate. Importantly, inhibition of PIM results in enhanced suppression of primary leukemic progenitors from patients with CML. Altogether these findings suggest that pharmacological PIM targeting may provide a unique therapeutic approach for the treatment of Ph+ leukemias. PMID:26375673

The Philadelphia Glaucoma Detection and Treatment Project

PubMed Central

Waisbourd, Michael; Pruzan, Noelle L.; Johnson, Deiana; Ugorets, Angela; Crews, John E.; Saaddine, Jinan B.; Henderer, Jeffery D.; Hark, Lisa A.; Katz, L. Jay

2016-01-01

Purpose To evaluate the detection rates of glaucoma-related diagnoses and the initial treatments received in the Philadelphia Glaucoma Detection and Treatment Project, a community-based initiative aimed at improving the detection, treatment, and follow-up care of individuals at risk for glaucoma. Design Retrospective analysis. Participants A total of 1649 individuals at risk for glaucoma who were examined and treated in 43 community centers located in underserved communities of Philadelphia. Methods Individuals were enrolled if they were African American aged ≥50 years, were any other adult aged ≥60 years, or had a family history of glaucoma. After attending an informational glaucoma workshop, participants underwent a targeted glaucoma examination including an ocular, medical, and family history; visual acuity testing, intraocular pressure (IOP) measurement, and corneal pachymetry; slit-lamp and optic nerve examination; automated visual field testing; and fundus color photography. If indicated, treatments included selective laser trabeculoplasty (SLT), laser peripheral iridotomy (LPI), or IOP-lowering medications. Follow-up examinations were scheduled at the community sites after 4 to 6 weeks or 4 to 6 months, depending on the clinical scenario. Main Outcome Measures Detection rates of glaucoma-related diagnoses and types of treatments administered. Results Of the 1649 individuals enrolled, 645 (39.1%) received a glaucoma-related diagnosis; 20.0% (n = 330) were identified as open-angle glaucoma (OAG) suspects, 9.2% (n = 151) were identified as having narrow angles (or as a primary angle closure/suspect), and 10.0% (n = 164) were diagnosed with glaucoma, including 9.0% (n = 148) with OAG and 1.0% (n = 16) with angle-closure glaucoma. Overall, 39.0% (n = 64 of 164) of those diagnosed with glaucoma were unaware of their diagnosis. A total of 196 patients (11.9%) received glaucoma-related treatment, including 84 (5.1%) who underwent LPI, 13 (0.8%) who underwent SLT

ATG7 regulates energy metabolism, differentiation and survival of Philadelphia-chromosome-positive cells

PubMed Central

Karvela, Maria; Baquero, Pablo; Kuntz, Elodie M.; Mukhopadhyay, Arunima; Mitchell, Rebecca; Allan, Elaine K.; Chan, Edmond; Kranc, Kamil R.; Calabretta, Bruno; Salomoni, Paolo; Gottlieb, Eyal; Holyoake, Tessa L.; Helgason, G. Vignir

2016-01-01

ABSTRACT A major drawback of tyrosine kinase inhibitor (TKI) treatment in chronic myeloid leukemia (CML) is that primitive CML cells are able to survive TKI-mediated BCR-ABL inhibition, leading to disease persistence in patients. Investigation of strategies aiming to inhibit alternative survival pathways in CML is therefore critical. We have previously shown that a nonspecific pharmacological inhibition of autophagy potentiates TKI-induced death in Philadelphia chromosome-positive cells. Here we provide further understanding of how specific and pharmacological autophagy inhibition affects nonmitochondrial and mitochondrial energy metabolism and reactive oxygen species (ROS)-mediated differentiation of CML cells and highlight ATG7 (a critical component of the LC3 conjugation system) as a potential specific therapeutic target. By combining extra- and intracellular steady state metabolite measurements by liquid chromatography-mass spectrometry with metabolic flux assays using labeled glucose and functional assays, we demonstrate that knockdown of ATG7 results in decreased glycolysis and increased flux of labeled carbons through the mitochondrial tricarboxylic acid cycle. This leads to increased oxidative phosphorylation and mitochondrial ROS accumulation. Furthermore, following ROS accumulation, CML cells, including primary CML CD34+ progenitor cells, differentiate toward the erythroid lineage. Finally, ATG7 knockdown sensitizes CML progenitor cells to TKI-induced death, without affecting survival of normal cells, suggesting that specific inhibitors of ATG7 in combination with TKI would provide a novel therapeutic approach for CML patients exhibiting persistent disease. PMID:27168493

Simultaneous regression of Philadelphia chromosome and multiple nonrecurrent clonal chromosomal abnormalities with imatinib mesylate in a patient autografted 22 years before for chronic myelogenous leukemia.

PubMed

Van Den Akker, J; Coppo, P; Portnoï, M F; Barbu, V; Bories, D; Gorin, N C

2007-09-01

A 31-year-old patient developed chronic myelogenous leukemia (CML) in November, 1983. In November 1984, following a diagnosis of acceleration, he received an autologous hemopoietic transplant after conditioning with cyclophosphamide and total body irradiation. The autologous marrow was purged with mafosfamide. Over 20 years, the patient remained in chronic phase of CML. Multiple nonrecurrent clonal chromosomal abnormalities appeared leading to a very complex karyotype, including among others involvement of chromosomes 1, 7, 9, 13, 19, and X. Fluorescent in situ hybridization showed that the two chromosomes 9 were involved. Acute myeloid crisis was diagnosed in February, 2004. Treatment with imatinib mesylate resulted within 6 months in a total disappearance of all chromosomal abnormalities with a complete cytogenetic and molecular response, which persists 3 years later. We question whether the ex vivo purging procedure with mafosfamide has favored the occurrence of these particular cytogenetic abnormalities (with no independent oncogenic potential) within the original leukemic stem cell pool. It remains unclear whether the autologous transplantation has indeed resulted into some prolongation of the duration of the chronic phase, which lasted for 20 years. At time of acute crisis, the dramatic response to imatinib mesylate leading to a complete cytogenetic and molecular response is noteworthy.

Long-term evaluation of cardiac and vascular toxicity in patients with Philadelphia chromosome-positive leukemias treated with bosutinib.

PubMed

Cortes, Jorge E; Jean Khoury, H; Kantarjian, Hagop; Brümmendorf, Tim H; Mauro, Michael J; Matczak, Ewa; Pavlov, Dmitri; Aguiar, Jean M; Fly, Kolette D; Dimitrov, Svetoslav; Leip, Eric; Shapiro, Mark; Lipton, Jeff H; Durand, Jean-Bernard; Gambacorti-Passerini, Carlo

2016-06-01

Vascular and cardiac safety during tyrosine kinase inhibitor (TKI) therapy is an emerging issue. We evaluated vascular/cardiac toxicities associated with long-term bosutinib treatment for Philadelphia chromosome-positive (Ph+) leukemia based on treatment-emergent adverse events (TEAEs) and changes in QTc intervals and ejection fraction in two studies: a phase 1/2 study of second-/third-/fourth-line bosutinib for Ph+ leukemia resistant/intolerant to prior TKIs (N = 570) and a phase 3 study of first-line bosutinib (n = 248) versus imatinib (n = 251) in chronic phase chronic myeloid leukemia. Follow-up time was ≥48 months (both studies). Incidences of vascular/cardiac TEAEs in bosutinib-treated patients were 7%/10% overall with similar incidences observed with first-line bosutinib (5%/8%) and imatinib (4%/6%). Few patients had grade ≥3 vascular/cardiac events (4%/4%) and no individual TEAE occurred in >2% of bosutinib patients. Exposure-adjusted vascular/cardiac TEAE rates (patients with events/patient-year) were low for second-line or later bosutinib (0.037/0.050) and not significantly different between first-line bosutinib (0.015/0.024) and imatinib (0.011/0.017; P ≥ 0.267). Vascular/cardiac events were managed mainly with concomitant medications (39%/44%), bosutinib treatment interruptions (18%/21%), or dose reductions (4%/8%); discontinuations due to these events were rare (0.7%/1.0%). Based on logistic regression modelling, performance status >0 and history of vascular or cardiac disorders were prognostic of vascular/cardiac events in relapsed/refractory patients; hyperlipidemia/hypercholesterolemia and older age were prognostic of cardiac events. In newly diagnosed patients, older age was prognostic of vascular/cardiac events; history of diabetes was prognostic of vascular events. Incidences of vascular and cardiac events were low with bosutinib in the first-line and relapsed/refractory settings following long-term treatment in patients

Nine (9) marker chromosomes diagnosed prenatally in 6,234 cases and their outcome

DOE Office of Scientific and Technical Information (OSTI.GOV)

Raghunathan, L.; Demarest, A.; Wisniewski, L.

1994-09-01

Marker chromosomes have a frequency of 0.06-0.08 per 1000 in prenatal diagnosis specimens and often pose a dilemma in counseling because of an inability in most cases to identify the marker chromosome cytogenetically. An attempt is made in this study to characterize the marker chromosomes we found in our prenatal diagnosis from 1991-1993. We diagnosed 9 cases of marker chromosomes out of 6,234 prenatal diagnostic studies. Eight cases were patients referred because of advanced maternal age and one (GS) was referred after abnormal ultrasound findings. Six cases were mosaic for a marker. Seven of these patients continued their pregnancies, onemore » patient had a dizygotic twin pregnancy (CM) where the co-twin had normal chromosome complement. Parental chromosomes on all of these cases were normal (in one couple the wife (VA) had a 46,XX/47,XXX karyotype). Special staining methods used for identifying the markers were DAPI/DA, NOR, C, R and FISH. Of the seven pregnancies that were continued, two babies were born with complications, and one of them (GS) subsequently died at six months of age. The marker in this baby was identified as chromosome 14 in origin by FISH. The other (LM) baby was born with extrophy of the bladder. The marker in the dizygotic twin (CM) was identified as chromosome 13 in origin by FISH. The rest of the pregnancies with a marker chromosome had a normal outcome with phenotypically normal babies without any complications. By parental report, babies were developing normally at 1 day (VA), 4 months (CM), 8 months (CL), 9 months (KP) and 22 months (EN) of age. Results of FISH studies on these cases will be presented along with a detailed table.« less

Philadelphia chromosome-negative classical myeloproliferative neoplasms: revised management recommendations from European LeukemiaNet.

PubMed

Barbui, Tiziano; Tefferi, Ayalew; Vannucchi, Alessandro M; Passamonti, Francesco; Silver, Richard T; Hoffman, Ronald; Verstovsek, Srdan; Mesa, Ruben; Kiladjian, Jean-Jacques; Hehlmann, Rȕdiger; Reiter, Andreas; Cervantes, Francisco; Harrison, Claire; Mc Mullin, Mary Frances; Hasselbalch, Hans Carl; Koschmieder, Steffen; Marchetti, Monia; Bacigalupo, Andrea; Finazzi, Guido; Kroeger, Nicolaus; Griesshammer, Martin; Birgegard, Gunnar; Barosi, Giovanni

2018-05-01

This document updates the recommendations on the management of Philadelphia chromosome-negative myeloproliferative neoplasms (Ph-neg MPNs) published in 2011 by the European LeukemiaNet (ELN) consortium. Recommendations were produced by multiple-step formalized procedures of group discussion. A critical appraisal of evidence by using Grades of Recommendation, Assessment, Development and Evaluation (GRADE) methodology was performed in the areas where at least one randomized clinical trial was published. Seven randomized controlled trials provided the evidence base; earlier phase trials also informed recommendation development. Key differences from the 2011 diagnostic recommendations included: lower threshold values for hemoglobin and hematocrit and bone marrow examination for diagnosis of polycythemia vera (PV), according to the revised WHO criteria; the search for complementary clonal markers, such as ASXL1, EZH2, IDH1/IDH2, and SRSF2 for the diagnosis of myelofibrosis (MF) in patients who test negative for JAK2V617, CALR or MPL driver mutations. Regarding key differences of therapy recommendations, both recombinant interferon alpha and the JAK1/JAK2 inhibitor ruxolitinib are recommended as second-line therapies for PV patients who are intolerant or have inadequate response to hydroxyurea. Ruxolitinib is recommended as first-line approach for MF-associated splenomegaly in patients with intermediate-2 or high-risk disease; in case of intermediate-1 disease, ruxolitinib is recommended in highly symptomatic splenomegaly. Allogeneic stem cell transplantation is recommended for transplant-eligible MF patients with high or intermediate-2 risk score. Allogeneic stem cell transplantation is also recommended for transplant-eligible MF patients with intermediate-1 risk score who present with either refractory, transfusion-dependent anemia, blasts in peripheral blood > 2%, adverse cytogenetics, or high-risk mutations. In these situations, the transplant procedure should be

Prognostication in Philadelphia Chromosome Negative Myeloproliferative Neoplasms: a Review of the Recent Literature.

PubMed

Zhou, Amy; Afzal, Amber; Oh, Stephen T

2017-10-01

The prognosis for patients with Philadelphia chromosome (Ph)-negative myeloproliferative neoplasms (MPNs) is highly variable. All Ph-negative MPNs carry an increased risk for thrombotic complications, bleeding, and leukemic transformation. Several clinical, biological, and molecular prognostic factors have been identified in recent years, which provide important information in guiding management of patients with Ph-negative MPNs. In this review, we critically evaluate the recent published literature and discuss important new developments in clinical and molecular factors that impact survival, disease transformation, and thrombosis in patients with polycythemia vera, essential thrombocythemia, and primary myelofibrosis. Recent studies have identified several clinical factors and non-driver mutations to have prognostic impact on Ph-negative MPNs independent of conventional risk stratification and prognostic models. In polycythemia vera (PV), leukocytosis, abnormal karyotype, phlebotomy requirement on hydroxyurea, increased bone marrow fibrosis, and mutations in ASXL1, SRSF2, and IDH2 were identified as additional adverse prognostic factors. In essential thrombocythemia (ET), JAK2 V617F mutation, splenomegaly, and mutations in SH2B3, SF3B1, U2AF1, TP53, IDH2, and EZH2 were found to be additional negative prognostic factors. Bone marrow fibrosis and mutations in ASXL1, SRSF2, EZH2, and IDH1/2 have been found to be additional prognostic factors in primary myelofibrosis (PMF). CALR mutations appear to be a favorable prognostic factor in PMF, which has not been clearly demonstrated in ET. The prognosis for patients with PV, ET, and PMF is dependent upon the presence or absence of several clinical, biological, and molecular risk factors. The significance of additional risk factors identified in these recent studies will need further validation in prospective studies to determine how they may be best utilized in the management of these disorders.

Assessing Residential Segregation among Medicaid Recipients with Psychiatric Disability in Philadelphia

ERIC Educational Resources Information Center

Metraux, Stephen; Caplan, Joel M.; Klugman, Dutch; Hadley, Trevor R.

2007-01-01

This study assesses the extent of residential segregation among 15,246 people diagnosed with psychiatric disabilities and receiving Medicaid (MA) in Philadelphia, and an identically sized group of MA recipients serving as matched controls. Results indicate that overall levels of residential segregation among this group were modest at their most…

Are occupational, hobby, or lifestyle exposures associated with Philadelphia chromosome positive chronic myeloid leukaemia?

PubMed Central

Bjork, J; Albin, M; Welinder, H; Tinnerberg, H; Mauritzson, N; Kauppinen, T; Stromberg, U; Johansson, B; Billstrom, R; Mikoczy, Z; Ahlgren, T; Nilsson, P; Mitelman, F; Hagmar, L

2001-01-01

OBJECTIVES—To investigate a broad range of occupational, hobby, and lifestyle exposures, suggested as risk factors for Philadelphia chromosome positive (Ph+) chronic myeloid leukaemia (CML).
METHODS—A case-control study, comprising 255 Ph+CML patients from southern Sweden and matched controls, was conducted. Individual data on work tasks, hobbies, and lifestyle exposures were obtained by telephone interviews. Occupational hygienists assessed occupational and hobby exposures for each subject individually. Also, occupational titles were obtained from national registries, and group level exposure—that is, the exposure proportion for each occupational title—was assessed with a job exposure matrix. The effects of 11 exposures using individual data and two exposures using group data (organic solvents and animal dust) were estimated.
RESULTS—For the individual data on organic solvents, an effect was found for moderate or high intensity of exposure (odds ratio (OR) 3.4, 95% confidence interval (95% CI) 1.1 to 11) and for long duration (15-20 years) of exposure (OR 2.1, 95% CI 1.1 to 4.0). By contrast, the group data showed no association (OR 0.69, 95% CI 0.27 to 1.8; moderate or high intensity versus no exposure). For extremely low frequency electromagnetic fields (EMFs), only individual data were available. An association with long occupational exposure to EMFs was found (OR 2.3, 95% CI 1.2 to 4.5). However, no effect of EMF intensity was indicated. No significant effects of benzene, gasoline or diesel, or tobacco smoking were found. OR estimates below unity were suggested for personal use of hair dye and for agricultural exposures.
CONCLUSIONS—Associations between exposure to organic solvents and EMFs, and Ph+CML were indicated but were not entirely consistent.


Keywords: risk factors; epidemiology; case-control study PMID:11600728

Bosutinib: a review of its use in patients with Philadelphia chromosome-positive chronic myelogenous leukemia.

PubMed

Syed, Yahiya Y; McCormack, Paul L; Plosker, Greg L

2014-02-01

Bosutinib (Bosulif®) is an orally administered small molecule tyrosine kinase inhibitor (TKI) of BCR-ABL and SRC family kinases. It is indicated for the treatment of adult patients with chronic-, accelerated-, or blast-phase Philadelphia chromosome-positive (Ph+) chronic myelogenous leukemia (CML) with resistance or intolerance to prior therapy (imatinib, dasatinib, or nilotinib) [USA] or for a small subpopulation of these patients for whom imatinib, nilotinib, and dasatinib are not considered appropriate treatment options (EU). In a multinational pivotal trial (n = 547), bosutinib treatment resulted in a major cytogenetic response (MCyR) at 24 weeks in one-third of all treated patients with imatinib-resistant chronic-phase CML who had no previous exposure to any TKIs other than imatinib (primary endpoint), with similar results observed in chronic-phase CML patients who were intolerant of imatinib and naïve to all other TKIs. MCyRs were also seen in more than one-quarter of evaluable patients with chronic-phase CML previously treated with multiple TKIs. Most of the patients with chronic-phase CML achieved a complete hematologic response with bosutinib and some patients with advanced phases of CML achieved an overall hematologic response. Responses were seen irrespective of the type of BCR-ABL mutation at baseline, except T315I. Bosutinib had a manageable tolerability profile in the pivotal trial, with ≤21 % of patients with chronic-phase CML discontinuing the treatment because of adverse events. Diarrhea was the most common adverse event but was generally manageable, with only few patients discontinuing the treatment because of diarrhea. Therefore, bosutinib is a useful TKI option for patients with Ph+ CML in second-line or greater settings.

Imatinib after induction for treatment of children and adolescents with Philadelphia-chromosome-positive acute lymphoblastic leukaemia (EsPhALL): a randomised, open-label, intergroup study.

PubMed

Biondi, Andrea; Schrappe, Martin; De Lorenzo, Paola; Castor, Anders; Lucchini, Giovanna; Gandemer, Virginie; Pieters, Rob; Stary, Jan; Escherich, Gabriele; Campbell, Myriam; Li, Chi-Kong; Vora, Ajay; Aricò, Maurizio; Röttgers, Silja; Saha, Vaskar; Valsecchi, Maria Grazia

2012-09-01

Trials of imatinib have provided evidence of activity in adults with Philadelphia-chromosome-positive acute lymphoblastic leukaemia (ALL), but the drug's role when given with multidrug chemotherapy to children is unknown. This study assesses the safety and efficacy of oral imatinib in association with a Berlin-Frankfurt-Munster intensive chemotherapy regimen and allogeneic stem-cell transplantation for paediatric patients with Philadelphia-chromosome-positive ALL. Patients aged 1-18 years recruited to national trials of front-line treatment for ALL were eligible if they had t(9;22)(q34;q11). Patients with abnormal renal or hepatic function, or an active systemic infection, were ineligible. Patients were enrolled by ten study groups between 2004 and 2009, and were classified as good risk or poor risk according to early response to induction treatment. Good-risk patients were randomly assigned by a web-based system with permuted blocks (size four) to receive post-induction imatinib with chemotherapy or chemotherapy only in a 1:1 ratio, while all poor-risk patients received post-induction imatinib with chemotherapy. Patients were stratified by study group. The chemotherapy regimen was modelled on a Berlin-Frankfurt-Munster high-risk backbone; all received four post-induction blocks of chemotherapy after which they became eligible for stem-cell transplantation. The primary endpoints were disease-free survival at 4 years in the good-risk group and event-free survival at 4 years in the poor-risk group, analysed by intention to treat and a secondary analysis of patients as treated. The trial is registered with EudraCT (2004-001647-30) and ClinicalTrials.gov, number NCT00287105. Between Jan 1, 2004, and Dec 31, 2009, we screened 229 patients and enrolled 178: 108 were good risk and 70 poor risk. 46 good-risk patients were assigned to receive imatinib and 44 to receive no imatinib. Median follow-up was 3·1 years (IQR 2·0-4·6). 4-year disease-free survival was 72·9% (95

Heterogeneity of chromosome 22 breakpoint in Philadelphia-positive (Ph/sup +/) acute lymphocytic leukemia

DOE Office of Scientific and Technical Information (OSTI.GOV)

Erikson, J.; Griffin, C.A.; Ar-Rushdi, A.

1986-03-01

In chronic myelogenous leukemias (CML) with the t(9;22)(q34;q11) chromosome translocation the breakpoints on chromosome 22 occur within a 5.8-kilobase segment of DNA referred to as breakpoint cluster region (bcr). The same cytogenetically indinstinguishable translocation occurs in approximately 10% of patients with acute lymphocytic leukemias (ALL). In this study the authors have investigated the chromosome breakpoints in several cases of ALL carrying the t(9;22) translocation. In three of five cases of ALL they found that the bcr region was not involved in the chromosome rearrangement and that the 22q11 chromosome breakpoints were proximal (5') to the bcr region at band 22q11.more » In addition, they observed normal size bcr and c-alb transcripts in an ALL cell line carrying the t(9;22) translocation. They conclude, therefore, that if c-alb is inappropriately expressed in ALL cells without bcr rearrangements, the genetic mechanism of activation must be different from that reported for CML.« less

Cultural Participation in the Philadelphia Area.

ERIC Educational Resources Information Center

Hanford, Terry; And Others

Described are the results of two separate surveys of cross-sections of the Philadelphia public concerning their cultural behavior, attitudes, and perceptions. The more recent survey was conducted in 1984 with a random telephone sample of 404 Philadelphia residents. The other survey consisted of a subset of approximately 400 Philadelphia area…

Secondary thrombotic microangiopathy in two patients with Philadelphia-positive hematological malignancies treated with imatinib mesylate.

PubMed

Ojeda-Uribe, Mario; Merieau, Sylvain; Guillon, Marie; Aujoulat, Olivier; Hinschberger, Olivier; Eisenmann, Jean-Claude; Kenizou, David; Debliquis, Agathe; Veyradier, Agnès; Chantrel, François

2016-04-01

Drug-mediated thrombotic microangiopathy may cause life-threatening medical emergencies. Novel targeted therapies have dramatically changed the prognosis of a number of oncological diseases. Tyrosine kinase inhibitors of the Breakpoint Cluster Region-Abelson (BCR-ABL) oncoprotein are used in patients with chronic myeloid leukemia or Philadelphia chromosome-positive acute lymphoblastic leukemia. Imatinib mesylate, which was the first anti-BCR-ABL tyrosine kinase inhibitor, has demonstrated a high tolerance profile and efficacy in these patients for many years. Good results have also been observed in patients with gastrointestinal stromal tumors. In this study, we describe two patients with Philadelphia chromosome-positive hematological malignancies who presented with secondary thrombotic microangiopathy that was most likely linked to the use of imatinib. Other potential causes of thrombotic microangiopathy were discarded, and the predisposing role of some comorbidities and potential short or long-term drug-drug interactions was assessed. The clinical and biological data were more indicative of atypical secondary hemolytic uremic syndrome in one of the cases and of secondary thrombotic microangiopathy with renal and cardiac impairment in the other, which is also categorized as secondary hemolytic uremic syndrome. The outcome was favorable after imatinib discontinuation and the treatment of severe cardiac and renal failures. © The Author(s) 2015.

Effects of Bosutinib Treatment on Renal Function in Patients With Philadelphia Chromosome-Positive Leukemias.

PubMed

Cortes, Jorge E; Gambacorti-Passerini, Carlo; Kim, Dong-Wook; Kantarjian, Hagop M; Lipton, Jeff H; Lahoti, Amit; Talpaz, Moshe; Matczak, Ewa; Barry, Elly; Leip, Eric; Brümmendorf, Tim H; Khoury, H Jean

2017-10-01

The purpose of the study was to assess renal function in patients with Philadelphia chromosome-positive leukemias receiving bosutinib or imatinib. Patients received first-line bosutinib (n = 248) or imatinib (n = 251; phase III trial), or second-line or later bosutinib (phase I/II trial; n = 570). Adverse events (AEs) and changes from baseline in estimated glomerular filtration rate (eGFR) and serum creatinine were assessed. Time from the last patient's first dose to data cutoff was ≥ 48 months. Renal AEs were reported in 73/570 patients (13%) receiving second-line or later bosutinib, and in 22/248 (9%) and 16/251 (6%) receiving first-line bosutinib and imatinib, respectively. eGFR in patients receiving bosutinib declined over time with more patients developing Grade ≥ 3b eGFR (< 45 mL/min/1.73 m 2 according to the Modification of Diet in Renal Disease method) with second-line or later bosutinib (139/570, 24%) compared with first-line bosutinib (26/248, 10%) and imatinib (25/251, 10%); time to Grade ≥ 3b eGFR was shortest with second-line or later bosutinib. Similar proportions of patients receiving second-line or later bosutinib (74/139, 53%), first-line bosutinib (15/26, 58%), and first-line imatinib (15/25, 60%) improved to ≥ 45 mL/min/1.73 m 2 eGFR as of the last follow-up. In a regression analysis, first-line treatment with bosutinib versus imatinib was not a significant predictor of Grade ≥ 3b eGFR. Long-term bosutinib treatment is associated with an apparently reversible decline in renal function with frequency and characteristics similar to renal decline observed with long-term imatinib treatment. Patients with risk factors for Grade ≥ 3b eGFR should be monitored closely. Copyright © 2017 Elsevier Inc. All rights reserved.

Outcomes with frontline nilotinib treatment in Turkish patients with newly diagnosed Philadelphia chromosome-positive chronic myeloid leukemia in chronic phase.

PubMed

Saydam, Guray; Haznedaroglu, Ibrahim C; Kaynar, Leylagul; Yavuz, Akif S; Ali, Ridvan; Guvenc, Birol; Akay, Olga M; Baslar, Zafer; Ozbek, Ugur; Sonmez, Mehmet; Aydin, Demet; Pehlivan, Mustafa; Undar, Bulent; Dagdas, Simten; Ayyildiz, Orhan; Akkaynak, Diyar Z; Akin, Gulnur; İlhan, Osman

2018-02-27

Nilotinib is a BCR-ABL1 tyrosine kinase inhibitor approved for the treatment of patients with chronic myeloid leukemia in chronic phase (CML-CP). This study was the first prospective evaluation of the efficacy and safety of nilotinib in Turkish patients with newly diagnosed CML-CP. The primary endpoint of the study was the rate of major molecular response (MMR; BCR-ABL1 ≤ 0.1% on the International Scale [BCR-ABL1 IS ]) by 12 months. Patients with newly diagnosed CML-CP were treated with nilotinib 300 mg twice daily. This analysis was based on the first 12 months of follow-up in a 24-month study. This study is registered with ClinicalTrials.gov (NCT01274351). Of 112 patients enrolled, 66.1% (80% CI, 59.7-72.0%) achieved MMR and 22.3% achieved a deep molecular response of MR 4.5 (BCR-ABL1 IS ≤0.0032%) by 12 months. During the first year of treatment, one patient progressed to blast crisis and two patients died. Safety results were consistent with previous studies. Most adverse events (AEs) were grade 1/2. Most frequently reported nonhematologic AEs of any grade were elevations in bilirubin, alanine aminotransferase, and triglycerides. These results support the use of nilotinib 300 mg twice daily as a standard-of-care treatment option for patients with newly diagnosed CML-CP with low and intermediate risk.

21. Scrapping In Dry Dock #4. Naval Shipyard Philadelphia. February ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

21. Scrapping In Dry Dock #4. Naval Shipyard Philadelphia. February 18, 1946. Original Photograph In Collection of National Archives, Mid-Atlantic Regional Records Center, Philadelphia. - Naval Base Philadelphia-Philadelphia Naval Shipyard, Dry Dock No. 4, Broad Street south of Government Avenue, Philadelphia, Philadelphia County, PA

View westsouthwest of marine railway at reserve basin of Philadelphia ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

View west-southwest of marine railway at reserve basin of Philadelphia Naval Shipyard. - Naval Base Philadelphia-Philadelphia Naval Shipyard, Reserve Basin & Marine Railway, League Island, Philadelphia, Philadelphia County, PA

Prenatally diagnosed de novo complex chromosome rearrangements: Two new cases and review of the literature

DOE Office of Scientific and Technical Information (OSTI.GOV)

Ruiz, C.; Grubs, R.E.; Jewett, T.

1994-09-01

Complex chromosome rearrangements (CCR) are rare structural rearrangements involving at least three chromosomes with three or more breakpoints. Although there have been numerous reports of individuals with CCR, most have been ascertained through the presence of multiple congenital anomalies, recurrent pregnancy loss, or infertility. Few cases have been ascertained prenatally. We present two new cases of prenatally ascertained CCR. In the first case, an amniocentesis revealed an apparently balanced de novo rearrangement in which chromosomes 5, 6 and 11 were involved in a three-way translocation: 46,XY,t(6;5)(5;11)(q23;p14.3;q15;p13). The pregnancy was unevenful. Recently, at the age of 9 months, a physical andmore » developmental evaluation were normal but, height, weight, and head circumference were below the 5th percentile. In the second case an amniocentesis revealed an unbalanced de novo rearrangement involving separate translocations and an interstitial deletion: 46,XY,del(6)(q25.3q27),t(3;8)(p13;q21.3),t(6;18)(p11.2;q11.2). A meconium plug was present at birth and at 6 months of age surgery for Hirschsprung`s disease was required. Currently, at 10 months of age, the patient has hypotonia and developmental delay. The paucity of information regarding prenatally diagnosed CCR poses a problem in counseling families. Of the four prenatally diagnosed balanced de novo CCR cases, three had abnormal outcomes. In a review of the literature, approximately 70% of the postnatally ascertained balanced de novo CCR cases were associated with congenital anomalies, growth retardation and/or mental retardation. More information regarding the outcome of prenatally ascertained balanced de novo CCR is required for accurate risk assessment.« less

The long-term clinical implications of clonal chromosomal abnormalities in newly diagnosed chronic phase chronic myeloid leukemia patients treated with imatinib mesylate.

PubMed

Lee, Sung-Eun; Choi, Soo Young; Bang, Ju-Hee; Kim, Soo-Hyun; Jang, Eun-Jung; Byeun, Ji-Young; Park, Jin Eok; Jeon, Hye-Rim; Oh, Yun Jeong; Kim, Myungshin; Kim, Dong-Wook

2012-11-01

The aim of this study was to evaluate the long-term clinical significance of an additional chromosomal abnormality (ACA), variant Philadelphia chromosome (vPh) at diagnosis, and newly developed other chromosomal abnormalities (OCA) in patients with chronic myeloid leukemia (CML) on imatinib (IM) therapy. Sequential cytogenetic data from 281 consecutive new chronic phase CML patients were analyzed. With a median follow-up of 78.6 months, the 22 patients with vPh (P = 0.034) or ACA (P = 0.034) at diagnosis had more events of IM failure than did the patients with a standard Ph. The 5-year overall survival (OS), event-free survival (EFS), and failure-free survival (FFS) rates for patients with vPh at diagnosis were 77.8%, 75.0%, and 53.3%, respectively; for patients with ACA at diagnosis, 100%, 66.3%, and 52.1%, respectively; and for patients with a standard Ph, 96.0%, 91.3%, and 83.7%, respectively. During IM therapy, eight patients developed an OCA, which had no impact on outcomes as a time-dependent covariate in our Cox proportional hazards regression models. This study showed that vPh was associated with poor OS and FFS and that ACA had adverse effects on EFS and FFS. In addition, no OCA, except monosomy 7, had any prognostic impact, suggesting that the development of OCA may not require a change in treatment strategy. Copyright © 2012 Elsevier Inc. All rights reserved.

Entinostat and Clofarabine in Treating Patients With Newly Diagnosed, Relapsed, or Refractory Poor-Risk Acute Lymphoblastic Leukemia or Bilineage/Biphenotypic Leukemia

ClinicalTrials.gov

2014-07-16

Acute Leukemias of Ambiguous Lineage; Philadelphia Chromosome Negative Adult Precursor Acute Lymphoblastic Leukemia; Recurrent Adult Acute Lymphoblastic Leukemia; Untreated Adult Acute Lymphoblastic Leukemia

School Desegregation, the Philadelphia Experience.

ERIC Educational Resources Information Center

Herron, William P.

The Philadelphia experience very strongly indicates that at least in Philadelphia, and very probably in most large cities in the northeastern U.S., several factors--notably the geographic separation of the races within the city and the existence of a sizable non-public school system (Usually (Usually parochial)--preclude the effective…

2. Photocopy of the fountain in front of Philadelphia Museum ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

2. Photocopy of the fountain in front of Philadelphia Museum of Art, ca. 1928, courtesy of Philadelphia Museum of Art - Fountain of the Sea Horses, Aquarium Lane, Philadelphia, Philadelphia County, PA

African Diaspora Movement Arts in Philadelphia: A Beginning Resource List. Philadelphia Folklore Project Working Papers #10.

ERIC Educational Resources Information Center

Brown-Danquah, Benita Binta

This guide provides history, format, contact names, addresses, and phone numbers of some African dance and African American marching units in Philadelphia (Pennsylvania). The working papers are divided into two categories. "Part One: Movements of African Dance in Philadelphia" begins with a sensitive, detailed explanation of the…

Interior view; Street Car Waiting House North Philadelphia Station, ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

Interior view; Street Car Waiting House - North Philadelphia Station, Street Car Waiting House, 2900 North Broad Street, on northwest corner of Broad Street & Glenwood Avenue, Philadelphia, Philadelphia County, PA

[Disappearance of Philadelphia chromosomes after remission induction in lymphoid crisis of chronic myelogenous leukemia].

PubMed

Nagafuji, K; Iwakiri, R; Miyamoto, T; Okamura, H; Yokota, E; Matsumoto, I

1992-09-01

The authors report a rare case of chronic myelogenous leukemia (CML) in which the Ph1 clone disappeared after remission induction of lymphoid crisis. A 58-year-old man was admitted to our hospital because of fever in July 1988. The white cell count was elevated. Bone marrow aspirate showed hypercellularity with myeloid hyperplasia. In the chromosomal analysis, Ph1 chromosomes were detected in 100% of bone marrow cells analysed. Diagnosis of CML was made and treatment was initiated with recombinant interferon-alpha 2a. Hematological remission without cytogenetic improvement was achieved. In March 1990 he developed lymphoid crisis with proliferation of CD10-positive cells. The chromosomal analysis revealed additional abnormalities including, 45, X, -Y, t(9;22) (q34;q11), +1, -8. With vincristine 0.6 mgX4, pirarubicin 15 mgX4, dexamethasone 40 mgX4 therapy complete remission was obtained. In December 1990 the Ph1 positive clone completely disappeared judging from normal karyotypes in the chromosomal analysis and the disappearance of M-bcr gene rearrangement.

Comprehensive District Reform: Philadelphia's Grand Experiment.

ERIC Educational Resources Information Center

Useem, Elizabeth; Balfanz, Robert

2002-01-01

This report describes "Philadelphia's Grand Experiment" in comprehensive school district reform, from its conception through its initial months of implementation. In 2001, as part of the remedy for low student performance, the governor ordered the state to take over governance of the Philadelphia School District, with a substantial…

Patient characteristics and outcomes in adolescents and young adults with classical Philadelphia chromosome-negative myeloproliferative neoplasms.

PubMed

Boddu, Prajwal; Masarova, Lucia; Verstovsek, Srdan; Strati, Paolo; Kantarjian, Hagop; Cortes, Jorge; Estrov, Zeev; Pierce, Sherry; Pemmaraju, Naveen

2018-01-01

Little is known about the outcomes of Philadelphia-negative myeloproliferative neoplasms (MPNs) in adolescents and young adults (AYA). We reviewed all patients with essential thrombocythemia (ET), polycythemia vera (PV), and myelofibrosis (MF) treated at our institution from 1988 to 2016 who were aged 16 to 39 years (AYA) and described their outcomes in comparison to older MPN population. Of 2206 patients, 185 (8.3%) were identified as AYA: 105 (57%) ET, 43 (23%) PV, and 37 (20%) MF. The median age was 33 years [range, 16-39], and median follow-up time 3 years [range, 0.04-25]. JAK2 allele burdens were significantly lower among AYA JAK2V617F-mutated patients in both PV (p = 0.001) and MF (p = 0.005). Seven percent of MPN AYA patients were diagnosed with a thrombotic event at, or prior to, diagnosis. Over the short median follow-up, 4 thrombotic (PV = 1, MF = 3) and 3 leukemia (ET = 2, MF = 1) events occurred. In multivariate analysis, AYA did not predict for thrombotic or transformational events across three cohorts. In the MF cohort, there was a reduced frequency of negative prognostic variables of anemia (p = 0.011) and leukocytosis (p = 0.048) in AYA when compared with non-AYA. Overall survival was significantly superior in the AYA cohorts in all three MPN groups, namely MF (p < 0.001), PV (p < 0.001), and ET (p = 0.002). Our findings suggest that MPN AYA patients exhibit an indolent clinical phenotype characterized by favorable survival outcomes.

NorthEast view; Platform, canopy, and freight elevator North Philadelphia ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

North-East view; Platform, canopy, and freight elevator - North Philadelphia Station, 2900 North Broad Street, on northwest corner of Broad Street & Glenwood Avenue, Philadelphia, Philadelphia County, PA

13. WEST END, LOOKING NE, PHILADELPHIA ZOO LION SCULPTURE IN ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

13. WEST END, LOOKING NE, PHILADELPHIA ZOO LION SCULPTURE IN FOREGROUND. - Connecting Railway, Schuylkill River Bridge, Spanning Schuylkill River, north of Girard Avenue Bridge, Philadelphia, Philadelphia County, PA

Comparison of geographic methods to assess travel patterns of persons diagnosed with HIV in Philadelphia: how close is close enough?

PubMed

Eberhart, Michael G; Share, Amanda M; Shpaner, Mark; Brady, Kathleen A

2015-02-01

Travel distance to medical care has been assessed using a variety of geographic methods. Network analyses are less common, but may generate more accurate estimates of travel costs. We compared straight-line distances and driving distance, as well as average drive time and travel time on a public transit network for 1789 persons diagnosed with HIV between 2010 and 2012 to identify differences overall, and by distinct geographic areas of Philadelphia. Paired t-tests were used to assess differences across methods, and analysis of variance was used to assess between-group differences. Driving distances were significantly longer than straight-line distances (p<0.001) and transit times were significantly longer than driving times (p<0.001). Persons living in the northeast section of the city traveled greater distances, and at greater cost of time and effort, than persons in all other areas of the city (p<0.001). Persons living in the northwest section of the city traveled farther and longer than all other areas except the northeast (p<0.0001). Network analyses that include public transit will likely produce a more realistic estimate of the travel costs, and may improve models to predict medical care outcomes. Copyright © 2014 Elsevier Inc. All rights reserved.

11. SOUTH (REAR) ELEVATION OF THE PHILADELPHIA SAVING FUND SOCIETY ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

11. SOUTH (REAR) ELEVATION OF THE PHILADELPHIA SAVING FUND SOCIETY (PSFS) BUILDING WITH MEETING HOUSE CORNICE IN FOREGROUND. - Twelfth Street Meeting House, 20 South Twelfth Street, Philadelphia, Philadelphia County, PA

3. Photocopy of drawing (from Moses King, Philadelphia and Notable ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

3. Photocopy of drawing (from Moses King, Philadelphia and Notable Philadelphians, 1902) MAIN BUILDING WITH ADDITION - New York Mutual Life Insurance Company Building, 1001-1005 Chestnut Street, Philadelphia, Philadelphia County, PA

20. Scrapping C112 U.S.S. Marblehead. Naval Shipyard Philadelphia. January 10, ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

20. Scrapping C1-12 U.S.S. Marblehead. Naval Shipyard Philadelphia. January 10, 1946. Original Photograph In Collection of National Archives, Mid-Atlantic Regional Records Center, Philadelphia. - Naval Base Philadelphia-Philadelphia Naval Shipyard, Dry Dock No. 4, Broad Street south of Government Avenue, Philadelphia, Philadelphia County, PA

6. 1831 engraving by Fenner, Sears and Company, Philadelphia. After ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

6. 1831 engraving by Fenner, Sears and Company, Philadelphia. After drawing by Charles Burton (see HABS No. PA-1487-7); probably not published until circa 1840-45. - Walnut Street Theater, 829-833 Walnut Street, Philadelphia, Philadelphia County, PA

14. LION SCULPTURE, AT THE PHILADELPHIA MUSEUM OF ART, MOVED ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

14. LION SCULPTURE, AT THE PHILADELPHIA MUSEUM OF ART, MOVED FROM MERCHANTS' EXCHANGE, WHERE IT RESTED ON THE STAIR WALL OF SIDE ENTRANCE STAIRS. (A REPLACEMENT LION HAS BEEN PLACED IN THE ORIGINAL SITE, AS DID ANOTHER REPLACEMENT IN THE OTHER SIDE OF THE BUILDING. FOR THIS LATTER REPLACEMENT SEE PA-1028-15). A VIEW OF THE MUSEUM IS IN THE BACKGROUND - Philadelphia Exchange Company, 143 South Third Street, Philadelphia, Philadelphia County, PA

4. VIEW RECONSTRUCTED TOWER, LOOKING NNE. Philadelphia & Reading ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

4. VIEW RECONSTRUCTED TOWER, LOOKING NNE. - Philadelphia & Reading Railroad, Pedestrian Suspension Bridge, Foot of Sixth Street at Schuylkill River (formerly spanned Philadelphia & Reading main line at Reading Depot), Reading, Berks County, PA

3. DETAIL OF WEST TOWER, LOOKING NE. Philadelphia & ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

3. DETAIL OF WEST TOWER, LOOKING NE. - Philadelphia & Reading Railroad, Pedestrian Suspension Bridge, Foot of Sixth Street at Schuylkill River (formerly spanned Philadelphia & Reading main line at Reading Depot), Reading, Berks County, PA

44. Storehouse of Philadelphia Signal Depot, U.S. Army Corps of ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

44. Storehouse of Philadelphia Signal Depot, U.S. Army Corps of Engineers, War Department (1942) - Atwater Kent Manufacturing Company, North Plant, 5000 Wissahickon Avenue, Philadelphia, Philadelphia County, PA

Delays in Post-Remission Chemotherapy for Philadelphia Chromosome Negative Acute Lymphoblastic Leukemia are Associated with Inferior Outcomes in Patients who Undergo Allogeneic Transplant: an Analysis from ECOG 2993/MRC UK ALLXII

PubMed Central

Kumar, Anita J.; Rowe, Jacob M.; Goldstone, Anthony H; Fielding, Adele; Marks, David I; Litzow, Mark; Paietta, Elisabeth; Lazarus, Hillard M.; Tallman, Martin S.; Luger, Selina M.; Loren, Alison W.

2016-01-01

Adults with acute lymphoblastic leukemia (ALL) have a poorer prognosis than children due to a high risk of relapse. One explanation may be variable adherence to dose-intense chemotherapy. However, little is known about risk factors for delays in therapy and their impact on survival. We conducted an analysis of ECOG 2993/UKALLXII trial to study delays in post-remission chemotherapy in adults with newly-diagnosed ALL. Logistic regression was used to identify risk factors for a very long delay (>4 weeks, VLD) in start of intensification therapy. Cox regression was used to evaluate the impact of delays on overall and event-free survival (OS, EFS). We evaluated 1076 Philadelphia chromosome negative (Ph-) patients who completed induction chemotherapy, achieved complete remission, and started intensification. Factors independently associated with VLD included: duration of hospitalization (Odds Ratio (OR)=1.2, p<0.001) during Phase I; thrombocytopenia during Phase I (OR=1.16, p=0.004) or Phase II (OR 1.13, p=0.001); chemotherapy dose reductions during induction Phase I (OR=1.72, p<0.014); female sex (OR=1.53, p=0.010); Black (OR=3.24, p=0.003) and Asian (OR=2.26, p=0.021) race; and increasing age (OR=1.31, p<0.001). In multivariate Cox regression, patients who underwent allogeneic stem cell transplant (alloHCT) had significantly worse OS (HR 1.4, p=0.03) and EFS (HR 1.4, p=0.02) after experiencing a VLD compared to alloHCT patients who experienced <=4 weeks delay. Specific populations (female, older, Black, and Asian patients) were more likely to experience delays in chemotherapy, as were those with significant toxicity during induction. Very long delays in therapy negatively affected outcomes in patients undergoing allografting. PMID:27468137

The U.S. Supreme Court's Philadelphia Decade.

ERIC Educational Resources Information Center

Stivison, David V.

Before Washington, D.C. became the permanent home of the United States Supreme Court, first New York and then Philadelphia hosted its meetings. From 1791 to 1801 the Court met in Philadelphia. This paper reviews the highlights of the Court's cases during this formative decade. Among the most important developments in the Court's jurisprudence at…

The Philadelphia Education Longitudinal Study (PELS): Report on the Transition to High School in the School District of Philadelphia.

ERIC Educational Resources Information Center

Neild, Ruth Curran; Weiss, Christopher C.

The Philadelphia Education Longitudinal Study (PELS) on the transition to ninth grade in Philadelphia highlights the high school choice process, course failure rates during ninth grade, and parents' responses to the transition to high school. The PELS study followed a city-wide random sample of public school students from the summer after eighth…

[Fetal malformations and chromosome abnormalities diagnosed at the Center of Prenatal Diagnosis of the University of Aquila in the 1995-1998 triennium].

PubMed

Carta, G; Iovenitti, P; D'Alfonso, A; Mascaretti, G; Moscarini, M

1999-10-01

Over the past few years numerous techniques have been developed, allowing an evaluation of fetal physiopathology that was unthinkable until recently. The authors describe 20 cases of fetal malformations and chromosomal abnormalities diagnosed by scan and amniocentesis at the Centre for Diagnosis and Obstetric Prophylaxis at L'Aquila University. Between January 1995 and April 1998 a total of 1180 amniocentesis and 4000 obstetric scans were performed in a group of 1650 pregnant women. Of the patients examined using ultrasound scan, 8 presented manifest fetal pathologies, of which 5 were associated with chromosome abnormalities: 1) left ventricular hypoplasia, common atrium, tricuspid dysplasia; 2) omphalocele; 3) Morgagni-Stewart-Morel syndrome; 4) plurilobate cystic hygroma; 5) duodenal atresia; 6) Dandy-Walker syndrome; 7) cystic hygroma and hydrops; 8) cystic hygroma, hydrops, cardiopathy and Dandy-Walker syndrome. Among the pregnant women undergoing amniocentesis without a prior diagnosis of fetal malformation, 12 presented pathological fetal karyotypes: 2 cases of Turner's syndrome; 2 cases of Edward's syndrome; 2 cases of Klinefelter's syndrome, of deletion of a stretch of chromosome 8; 1 case of Down's syndrome; 2 cases of supernumerary marker chromosome; 1 twin pregnancy with Klinefelter's syndrome in one twin and paracentric inversion of chromosome 13 in the other; 1 twin pregnancy with a small supernumerary marker chromosome in both twins. Ultrasonography often enables the diagnosis of congenital abnormalities not associated with chromosome pathologies. However, karyotype studies play an essential role in pregnancies with a high genetic risk.

South Philadelphia Passive Sampler Method project communication sheet

EPA Science Inventory

The Environmental Protection Agency, Office of Research and Development (EPA ORD), EPA Region 3, and the City of Philadelphia Air Measurements Services (AMS) are collaborating on research project in South Philadelphia starting in the spring of 2013. This project investigates how...

[From conventional cytogenetics to microarrays. Fifty years of Philadelphia chromosome].

PubMed

Hernández, Jesús M; Granada, Isabel; Solé, Francesc

2011-07-23

In 1960 Ph-chromosome was found associated with the presence of chronic myelogenous leukemia. In these 50 years an increasing number of cytogenetic abnormalities have been found associated with hematological malignancies. The presence of these abnormalities is not only important for the diagnosis of the patient, but it also contributes to the prognosis of patients with leukemia or lymphoma. For this reason the WHO classification of hematological disease has included these studies for the correct characterization of leukemias and lymphomas. In addition, the use of FISH and micromatrix methodologies have refined the genetic lesions present in these malignancies. The cytogenetic changes observed also provide further information in relation to the therapy. Copyright © 2010 Elsevier España, S.L. All rights reserved.

1. 3/4 VIEW, LOOKING NE. Philadelphia & Reading Railroad, ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

1. 3/4 VIEW, LOOKING NE. - Philadelphia & Reading Railroad, Pedestrian Suspension Bridge, Foot of Sixth Street at Schuylkill River (formerly spanned Philadelphia & Reading main line at Reading Depot), Reading, Berks County, PA

2. LOOKING NW, WITH READING DEPOT IN BACKGROUND. Philadelphia ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

2. LOOKING NW, WITH READING DEPOT IN BACKGROUND. - Philadelphia & Reading Railroad, Pedestrian Suspension Bridge, Foot of Sixth Street at Schuylkill River (formerly spanned Philadelphia & Reading main line at Reading Depot), Reading, Berks County, PA

The mutation profile of JAK2 and CALR in Chinese Han patients with Philadelphia chromosome-negative myeloproliferative neoplasms

PubMed Central

2014-01-01

Mutations in JAK2, MPL and CALR are highly relevant to the Philadelphia chromosome (Ph)-negative myeloproliferative neoplasms (MPNs). We performed high resolution melting analysis and Sanger sequencing together with T-A cloning to elucidate the unique mutation profile of these genes, in Chinese patients with MPNs. Peripheral blood DNA samples were obtained from 80 patients with polycythemia vera (PV), 80 patients with essential thrombocytosis (ET) and 50 patients with primary myelofibrosis (PMF). Ten PV patients were identified with diverse JAK2 exon 12 mutations. Five novel JAK2 Exon 12 mutation patterns (M532V/E543G, N533D, M535I/H538Y/K549I, E543G and D544N) were described. JAK2 V617F was detected in 140 samples (66 PV, 45 ET and 29 PMF). JAK2 Exon 12 mutations were prevalent (13%) and variable in the Chinese patients. Compared with PV patients with JAK2 V617F mutations, PV patients with JAK2 exon 12 mutations had an earlier median onset of disease (P = 0.0013). MPL W515L/K mutations were discerned in 4 ET and 3 PMF patients. Two kinds of CALR mutation, c. 1179_1230del and c. 1234_1235insTTGTC were detected in 20 ET and 16 PMF patients. A novel CALR mutation pattern (c. 1173_1223del/c. 1179_1230del) was identified in 2 PMF samples. In addition, 17 scattered point mutations in CALR c.1153 to c.1255 were also detected in 13 cases with CALR frame-shifting variations and 2 cases without CALR frame-shifting variations. Female patients showed a predisposition to CALR mutations (P = 0.0035). Chinese Ph-negative MPN patients have a unique mutation landscape in the common molecular markers of MPN diagnosis. Validation of the molecular diagnostic pipeline should be emphasized since there is a considerable ethnical diversity in the molecular profiles of Ph-negative MPNs. PMID:25023898

A Trip to Historic Philadelphia on the Web.

ERIC Educational Resources Information Center

Wilson, Elizabeth K.

1997-01-01

Describes an electronic field trip to colonial Philadelphia (Pennsylvania). The historic locale has generated enough websites (Philadelphia Historic District, Betsy Ross homepage, and the Franklin Institute Science Museum) for students to take a virtual tour of the colonial capital. Suggests structuring the activity as a know-want-learn (KWL)…

(Dis)empowerment: The Implementation of Corrective Mathematics in Philadelphia Empowerment Schools

ERIC Educational Resources Information Center

Connor, Hannah

2011-01-01

The need to improve math education around the country has been well documented, especially in urban school systems like Philadelphia. In Spring 2010, only 56.6% of students in Philadelphia Public schools scored proficient or advanced on the Pennsylvania State Standardized Assessment (PSSA). In Philadelphia Empowerment Schools, the 107 lowest…

A rare case of a three way complex variant positive Philadelphia translocation involving chromosome (9;11;22)(q34;p15;q11) in chronic myeloid leukemia: A case report

PubMed Central

Asif, Muhammad; Hussain, Abrar; Rasool, Mahmood

2016-01-01

The t(9;22)(q34;q11) translocation is present in 90–95% of patients with chronic myeloid leukemia (CML). Variant complex translocations have been observed in 5–8% of CML patients, in which a third chromosome other than (9;22) is involved. Imatinib mesylate is the first line breakpoint cluster region-Abelson gene (BCR/ABL)-targeted oral therapy for CML, and may produce a complete response in 70–80% of CML patients in the chronic phase. In the present study, a bone marrow sample was used for conventional cytogenetic analysis, and the fluorescence in situ hybridization (FISH) test was used for BCR/ABL gene detection. A hematological analysis was also performed to determine the white blood cell (WBC) count, red blood cell count, hemoglobin levels, packed and mean cell volumes, mean corpuscular hemoglobin, mean corpuscular hemoglobin concentration and platelet values of the patient. The hematological analysis of the patient indicated the increased WBC of 186.5×103 cells/µl, and decreased hemoglobin levels of 11.1 g/dl. The FISH test revealed that 67% cells demonstrated BCR/ABL gene translocation. The patient was treated with 400 mg imatinib mesylate daily, and was monitored at various intervals over a 6-month period. The present study reports the rare case of a patient that demonstrates a three-way Philadelphia chromosome-positive translocation involving 46XY,t(9;11;22)(q34;p15;q11)[10], alongside CML in the chronic phase. The translocation was analyzed using cytogenetic and FISH tests. PMID:27602125

Philadelphia-negative chronic myeloproliferative neoplasms

PubMed Central

Bittencourt, Rosane Isabel; Vassallo, Jose; Chauffaille, Maria de Lourdes Lopes Ferrari; Xavier, Sandra Guerra; Pagnano, Katia Borgia; Nascimento, Ana Clara Kneese; De Souza, Carmino Antonio; Chiattone, Carlos Sergio

2012-01-01

Chronic myeloproliferative diseases without the Philadelphia chromosome marker (Ph-), although first described 60 years ago, only became the subject of interest after the turn of the millennium. In 2001, the World Health Organization (WHO) defined the classification of this group of diseases and in 2008 they were renamed myeloproliferative neoplasms based on morphological, cytogenetic and molecular features. In 2005, the identification of a recurrent molecular abnormality characterized by a gain of function with a mutation in the gene encoding Janus kinase 2 (JAK2) paved the way for greater knowledge of the pathophysiology of myeloproliferative neoplasms. The JAK2 mutation is found in 90-98% of polycythemia vera and in about 50% essential thrombocytosis and primary myelofibrosis. In addition to the JAK2 mutation, other mutations involving TET2 (ten-eleven translocation), LNK (a membrane-bound adaptor protein); IDH1/2 (isocitrate dehydrogenase 1/2 enzyme); ASXL1 (additional sex combs-like 1) genes were found in myeloproliferative neoplasms thus showing the importance of identifying molecular genetic alterations to confirm diagnosis, guide treatment and improve our understanding of the biology of these diseases. Currently, polycythemia vera, essential thrombocytosis, myelofibrosis, chronic neutrophilic leukemia, chronic eosinophilic leukemia and mastocytosis are included in this group of myeloproliferative neoplasms, but are considered different situations with individualized diagnostic methods and treatment. This review updates pathogenic aspects, molecular genetic alterations, the fundamental criteria for diagnosis and the best approach for each of these entities. PMID:23049404

Health hazard evaluation report HETA 83-248-1515, Arco Philadelphia refinery, Philadelphia, Pennsylvania

DOE Office of Scientific and Technical Information (OSTI.GOV)

Lewis, F.A.; Parrish, G.

1984-10-01

A bulk sample of fractionator residue was analyzed for polynuclear aromatic (PNA) compounds at the catalytic cracking unit of ARCO Philadelphia Refinery (SIC-2911), Philadelphia, Pennsylvania in May, 1983. The study was requested by the Atlantic Independent Union to determine if skin rashes and skin irritation occurring among refinery workers were caused by PNA in the fractionators. The authors conclude that a health hazard from exposure to chemicals at the cracking unit may exist. No specific chemical agent can be identified. Dust from the catalyst and oily residues that could contaminate workers shoes and clothing may have contributed to some ofmore » the dermatitis cases. Recommendations include laundering workers coveralls by dry cleaning to insure the removal of oily residues, providing workers with oil resistant or oil proof work boots, and repairing the ventilator in the sample preparation room adjacent to the block house.« less

Philadelphia and the Tomato.

ERIC Educational Resources Information Center

Smith, Andrew F.; Kling, Tatiana

This booklet describes for elementary students the many contributions of people, traveling many places, over many years to bring the tomato to Philadelphia. The booklet includes the following: (1) "Introduction to the Tomato"; (2) "Where Does the Tomato Come From?"; (3) "The Spanish Tomato"; (4) "The Philadelphia…

Predictive and Prognostic Implications of Variant Philadelphia Translocations in CML: Experience From a Tertiary Oncology Center in Southern India.

PubMed

Kanakasetty, Govind Babu; Kuntejowdahalli, Lakshmaiah; Thanky, Aditi Harsh; Dasappa, Lokanatha; Jacob, Linu Abraham; Mallekavu, Suresh Babu; Kumari, Prasanna

2017-01-01

Chronic myeloid leukemia (CML) is a myeloproliferative disorder characterized by Philadelphia (Ph) chromosome with classical t(9;22)(q34;q11) seen in up to 90% of cases. However 5% to 10% of patients who present with variant Ph translocations (vPh) have been an area of research for their significance in predicting response to various therapies including tyrosine kinase inhibitors as well as prognosticating survival outcomes for many years involving varied patient populations, with conflicting results. We retrospectively analyzed our data from January 2002 to December 2014. Patients with vPh in chronic phase of CML (CML-CP) were analyzed with respect to their demographic parameters, response to imatinib therapy, and survival and their data were compared with data of patients with classical Ph translocation (cPh). Of 615 patients diagnosed with CML-CP, 72 patients (11.7%) showed vPh. Most common chromosomes involved in these translocations were 14 (13.9%), 11 (12.5%), 19 (9.7%), and 7 (8.3%). Rates of complete hematological response, complete cytogenetic response, and major molecular response were not statistically different between the groups. At 5 years, event-free survival, failure-free survival, progression-free survival, and overall survival were 60% versus 67.9%, 62.7% versus 69.7%, 84.7% versus 92.1%, and 87.5% versus 92.4%, respectively, in vPh and cPh. The differences in survival were statistically not significant. To our knowledge, this is the largest series of variant translocations in CML-CP, pertaining to the Indian population. Our data suggest that the presence of vPh in CML has no significant effect in predicting response to imatinib as well as in prognosticating survival. Copyright © 2016 Elsevier Inc. All rights reserved.

[Prenatal diagnostics of chromosomal aberrations Czech Republic: 1994-2007].

PubMed

Gregor, V; Sípek, A; Sípek, A; Horácek, J '; Langhammer, P; Petrzílková, L; Calda, P

2009-02-01

An analysis of prenatal diagnostics efficiency of selected types of chromosomal aberrations in the Czech Republic in 2007. Update of 1994-2007 data according to particular selected diagnoses. Retrospective epidemiological analysis of pre- and postnatal chromosomal aberrations diagnostics and its efficiency. Data on pre- and postnatally diagnosed birth defects in the Czech Republic during 1994-2007 were used. Data on prenatally diagnosed birth defects (and for terminated pregnancies) were collected from particular departments of prenatal diagnostics, medical genetics and ultrasound diagnostics in the Czech Republic, data on birth defects in births from the National Birth Defects Register (Institute for Health Information and Statistics). Total numbers over the period under the study, mean incidences of selected types of chromosomal aberrations and mean prenatal diagnostics efficiencies were analyzed. Following chromosomal aberrations were studied: Down, Edwards, Patau, Turner and Klinefelter syndromes and syndromes 47,XXX and 47,XYY. A relative proportion of Down, Edwards and Patau syndromes as well as other autosomal and gonosomal aberration is presented in figures. Recently, trisomies 13, 18 and 21 present around 70% of all chromosomal aberrations in selectively aborted fetuses, in other pregnancies, "other chromosomal aberrations" category (mostly balanced reciprocal translocations and inversions) present more than 2/3 of all diagnoses. During the period under the study, following total numbers, mean relative incidences (per 10,000 live births, in brackets) and mean prenatal diagnostics efficiency (in %) were found in following chromosomal syndromes: Down syndrome 2,244 (16.58) and 63.37%, Edwards syndrome 521 (3.85) and 79.93%, Patau syndrome 201 (1.49) and 68.87%, Turner syndrome 380 (2.81) and 79.89%, 47,XXX syndrome 61 (0.45) and 59.74%, Klinefelter syndrome 163 (1.20) and 73.65% and 47,XYY syndrome 22 (0.16) and 54.76%. The study gives updated results of

Strategies for Talent Management: Greater Philadelphia Companies in Action

ERIC Educational Resources Information Center

Council for Adult and Experiential Learning (NJ1), 2008

2008-01-01

Human capital is one of the critical issues that impacts the Greater Philadelphia region's ability to grow and prosper. The CEO Council for Growth (CEO Council) is committed to ensuring a steady and talented supply of quality workers for this region. "Strategies for Talent Management: Greater Philadelphia Companies in Action" provides…

For-Profit Writes Mandatory Courses for Philadelphia High Schools

ERIC Educational Resources Information Center

Olson, Lynn

2005-01-01

This article reports how Kaplan K12 Learning Services Group, a division of Kaplan Inc., has developed a new, standardized college-preparatory curriculum for the Philadelphia school district. The curriculum, which made its debut in the Philadelphia district in 2005, was a critical element in the district leadership's plan to improve secondary…

Strengthening Career and Technical Education and 21st Century Skills in Philadelphia

ERIC Educational Resources Information Center

Philadelphia Youth Network, 2009

2009-01-01

In Spring 2007, the John S. and James L. Knight Foundation awarded funds to the Philadelphia Youth Network (PYN) to undertake an analysis of Career and Technical Education (CTE) in Philadelphia, and to make recommendations on how CTE and other forms of career-connected education could better align with Philadelphia standards for college and career…

School Choice in Philadelphia.

ERIC Educational Resources Information Center

Keefe, Connie; Scher, Lauren; Sparks, Andrew; Weinbaum, Elliot

Throughout the country, a wide range of educational options exist, from neighborhood public schools to cyber-schools. This study focuses on school choice in improving the educational experience in one city, Philadelphia. The study employed interviews with policymakers, teachers, and others; a focus group of middle-school students; a collection of…

Going Small: Progress & Challenges of Philadelphia's Small High Schools

ERIC Educational Resources Information Center

Hartmann, Tracey; Reumann-Moore, Rebecca; Evans, Shani Adia; Haxton, Clarisse; Maluk, Holly; Neild, Ruth Curran

2009-01-01

Between 2003 and 2007, and without significant outside funding, the School District of Philadelphia created 25 new small high schools. This study, begun by Research for Action in 2006, follows the start-up and early implementation of these small high schools in Philadelphia. The study found that parents and students are interested in small high…

Age but not Philadelphia positivity impairs outcome in older/elderly patients with acute lymphoblastic leukemia in Sweden.

PubMed

Kozlowski, Piotr; Lennmyr, Emma; Ahlberg, Lucia; Bernell, Per; Hulegårdh, Erik; Karbach, Holger; Karlsson, Karin; Tomaszewska-Toporska, Beata; Åström, Maria; Hallböök, Heléne

2017-08-01

Older/elderly patients with acute lymphoblastic leukemia (ALL) are poorly represented in clinical trials. Using Swedish national leukemia registries, we investigated disease/patient characteristics, treatment choices, outcome, and the impact of an age-adapted protocol (introduced in 2009) in this population-based study of patients aged 55-85 years, diagnosed with ALL 2005-2012. Of 174 patients, 82% had B-phenotype, 11% Burkitt leukemia (excluded), and 7% T-phenotype. Philadelphia chromosome positivity (Ph+) occurred in 35%. Of the 155 B- and T-ALL patients, 80% were treated with intensive protocols, and 20% with a palliative approach. Higher age and WHO performance status ≥2 influenced the choice of palliation. Intensive, palliative, and both approaches resulted in complete remission rate 83/16/70% and 3-year overall survival (OS) 32/3/26%. The age-adapted protocol did not improve outcome. With intensive treatment, platelet count ≤35×10 9 /L and age ≥75 years were adverse prognostic factors for OS, Ph+ was not. Male sex was an adverse prognostic factor in the 55-64 year age-group. We report a high frequency of Ph+ in older/elderly patients, with no evidence of poorer outcome compared to Ph-negative disease. Overall prognosis for elderly patients with ALL remains dismal, despite the use of age-adapted treatment. © 2017 The Authors. European Journal of Haematology Published by John Wiley & Sons Ltd.

How Do Health Care Providers Diagnose Turner Syndrome?

MedlinePlus

... Email Print How do health care providers diagnose Turner syndrome? Health care providers use a combination of physical ... the X chromosomes is partially or completely missing. Turner syndrome also can be diagnosed during pregnancy by testing ...

Chromosomal aneuploidies and copy number variations in posterior fossa abnormalities diagnosed by prenatal ultrasonography.

PubMed

Lei, Ting; Feng, Jie-Ling; Xie, Ying-Jun; Xie, Hong-Ning; Zheng, Ju; Lin, Mei-Fang

2017-11-01

To explore the genetic aetiology of fetal posterior fossa abnormalities (PFAs). This study involved cases of PFAs that were identified by prenatal ultrasonographic screening and confirmed postnatally between January 2012 and January 2016. Conventional cytogenetic analyses and chromosomal microarray analysis were performed, and chromosomal aneuploidies and copy number variations (CNVs) were identified. Among 74 cases included in this study, 8 were of Blake's pouch cyst; 7, Dandy-Walker malformation; 11, vermian hypoplasia; 32, enlarged cisterna magna; and 16, cerebellar hypoplasia. The rates of nonbenign chromosomal aberrations (including chromosomal aneuploidies, pathogenic CNVs, and variants of unknown significance) were 2/8 (25.0%), 2/7 (28.5%), 8/11 (72.7%), 7/32 (21.9%), and 6/16 (37.5%), respectively. Cases were also classified as isolated PFAs (30/74), PFAs with other central nervous system (CNS) abnormalities (13/74), or PFAs with extra-CNS structural abnormalities (31/74). No fetuses with isolated PFAs or PFAs accompanied by other CNS abnormalities exhibited chromosomal aneuploidies or pathogenic CNVs. The rate of pathogenic chromosomal aberrations in the remaining fetuses was 17/31 (22.9%). The combined use of chromosomal microarray analysis and karyotype analysis might assist the prenatal diagnosis and management of PFAs, with extra-CNS structural abnormalities being detected by ultrasonography. © 2017 John Wiley & Sons, Ltd.

Philadelphia's "Servant-Leader" Superintendent

ERIC Educational Resources Information Center

Puente, Kelly

2012-01-01

This article profiles William Hite, Jr., a longtime educator and administrator, who began his career more than two decades ago as a high school athletic coach. Hite says his biggest passion is educating young people. And one of the best ways to serve students, he says, is by listening. Hite, 51, assumed his duties as Philadelphia's new…

School Closings in Philadelphia

ERIC Educational Resources Information Center

Jack, James; Sludden, John

2013-01-01

In 2012, the School District of Philadelphia closed six schools. In 2013, it closed 24. The closure of 30 schools has occurred amid a financial crisis, headlined by the district's $1.35 billion deficit. School closures are one piece of the district's plan to cut expenditures and close its budget gap. The closures are also intended to make…

Comparison of intensive, pediatric-inspired therapy with non-intensive therapy in older adults aged 55-65 years with Philadelphia chromosome-negative acute lymphoblastic leukemia.

PubMed

Ribera, Josep-Maria; García, Olga; Gil, Cristina; Mercadal, Santiago; García-Cadenas, Irene; Montesinos, Pau; Barba, Pere; Vives, Susana; González-Campos, José; Tormo, Mar; Esteve, Jordi; López, Aurelio; Moreno, María José; Ribera, Jordi; Alonso, Natalia; Bermúdez, Arancha; Amigo, María Luz; Genescà, Eulàlia; García, Daniel; Vall-Llovera, Ferran; Bergua, Juan Miguel; Guàrdia, Ramon; Monteserín, María Carmen; Bernal, Teresa; Calbacho, María; Martínez, María Pilar; Feliu, Evarist

2018-05-01

The standardization of treatment of older adults with Philadelphia chromosome negative (Ph-) acute lymphoblastic leukemia (ALL) is challenging, especially in the age range of 55-65 years. This study aimed to compare intensive, pediatric-inspired therapy with non-intensive therapy in this population of patients. The outcomes of 67 patients prospectively included in two consecutive pediatric-inspired intensive protocols (ALL-HR03 and ALL-HR11) from the Spanish PETHEMA Group were compared with those from 44 patients included in a contemporary semi-intensive protocol (ALL-OLD07). Baseline patient and ALL characteristics were similar in both groups, except for a younger median age in the intensive group (medians: 58 vs. 62 years). Patients treated intensively had a higher complete remission rate (85% vs. 64%, p = 0.005), a lower cumulative incidence of relapse (39% [95%CI, 25% to 52%] vs. 60% [95%CI, 38% to 77%], p = .003), a similar cumulative incidence of treatment-related mortality (28% [95% CI, 18%, 40%] vs. 21% [95% CI, 10%, 34%]) and superior event-free survival at 2 years (37% [95%CI, 25%-49%) vs. 21% [8%-34%], p = 0.002). On multivariable analysis the type of protocol was the only variable with independent significance for event-free survival (HR [95% CI]: 2 [1.3, 3], p = .002). Compared with less intensive chemotherapy, pediatric-inspired intensive chemotherapy significantly improves the outcome of older adults with Ph-negative ALL in the age range of 55-65 years. Copyright © 2018 Elsevier Ltd. All rights reserved.

Philadelphia's Renaissance Schools: Start up and Early Implementation. Executive Summary

ERIC Educational Resources Information Center

Research for Action, 2011

2011-01-01

In April 2009, Superintendent Arlene Ackerman announced her reform plan for the School District of Philadelphia (the District)--"Imagine 2014". Among other major initiatives, "Imagine 2014" laid the groundwork for Philadelphia's Renaissance Schools Initiative. The Renaissance Initiative, set to enter its second year in 2011-12, is an effort to…

Uterine cavity lavage: adding FISH to conventional cytogenetics for embryonic sexing and diagnosing common chromosomal aberrations.

PubMed

Ishai, D; Amiel, A; Diukman, R; Cogan, O; Lichtenstein, Z; Abramovici, H; Fejgin, M D

1995-10-01

This study was undertaken to examine the efficacy for early prenatal diagnosis of uterine cavity lavage at the level of the internal os and to assess the rate of maternal contamination. In phase I, uterine cavity lavage was performed in 38 women scheduled for pregnancy termination between 6 and 12 weeks. In addition to short- and long-term cultures, one-colour FISH (fluorescence in situ hybridization) with Y and X probes was used for fetal sexing. Two-colour FISH was used in all known male fetuses for the assessment of maternal contamination. In phase II, lavage was performed on 16 women. Fetal sex was diagnosed with direct labelled X and Y probes and common numerical chromosomal aberration was attempted with 18 and 21 direct labelled probes. Fetal sexing was successful in all cases in phases I and II. Out of 34 patients in which tissue was obtained, only FISH was done in six. Long-term cell cultures were successful in the other 28 cases, but complete karyotyping in 19 (56 per cent). No chromosomal aberration was found with the direct labelled probes 18 and 21 in FISH. Maternal contamination was assessed to be 5-10 per cent. This simple and easy-to-master technique is very effective in obtaining fetal cells early in pregnancy for genetic diagnosis, especially by FISH. However, the safety of the procedure must be tested in ongoing pregnancies.

76 FR 409 - Philadelphia International Airport, Capacity Enhancement Program, Environmental Impact Statement...

Federal Register 2010, 2011, 2012, 2013, 2014

2011-01-04

... in the Philadelphia Metropolitan Area during all weather conditions. This ROD sets forth FAA's final... current and future aviation demand in the Philadelphia Metropolitan Area during all weather conditions...

Impact of Community College of Philadelphia Allied Health Programs on the Philadelphia Region. Report #117.

ERIC Educational Resources Information Center

Philadelphia Community Coll., PA.

This report discusses the Allied Health programs at Community College of Philadelphia (CCP): (1) Clinical Laboratory Technician; (2) Dental Assisting Hygiene; (3) Dental Assisting Certificate; (4) Diagnostic Medical Imaging; (5) Dietetic Technician; (6) Health Information Technology; (7) Medical Assisting and Office Management; (8) Nursing; and…

Complex chromosomal rearrangement-a lesson learned from PGS.

PubMed

Frumkin, Tsvia; Peleg, Sagit; Gold, Veronica; Reches, Adi; Asaf, Shiri; Azem, Foad; Ben-Yosef, Dalit; Malcov, Mira

2017-08-01

The aim of the study is to report a case of non-diagnosed complex chromosomal rearrangement (CCR) identified by preimplantation genetic screening (PGS) followed by preimplantation genetic diagnosis (PGD) which resulted in a pregnancy and delivery of healthy offspring. A 29-year-old woman and her spouse, both diagnosed previously with normal karyotypes, approached our IVF-PGD center following eight early spontaneous miscarriages. PGS using chromosomal microarray analysis (CMA) was performed on biopsied trophectoderm. Fluorescence in situ hybridization (FISH), as well as re-karyotype, were performed on metaphase derived from peripheral blood of the couple. Subsequently, in the following PGD cycle, a total of seven blastocysts underwent CMA. A gain or loss at three chromosomes (3, 7, 9) was identified in six out of seven embryos in the first PGS-CMA cycle. FISH analysis of parental peripheral blood samples demonstrated that the male is a carrier of a CCR involving those chromosomes; this was in spite of a former diagnosis of normal karyotypes for both parents. Re-karyotype verified the complex translocation of 46,XY,t (3;7;9)(q23;q22;q22). Subsequently, in the following cycle, a total of seven blastocysts underwent PGD-CMA for the identified complex translocation. Two embryos were diagnosed with balanced chromosomal constitution. A single balanced embryo was transferred and pregnancy was achieved, resulting in the birth of a healthy female baby. PGS employing CMA is an efficient method to detect unrevealed chromosomal abnormalities, including complicated cases of CCR. The combined application of array CGH and FISH technologies enables the identification of an increased number of CCR carriers for which PGD is particularly beneficial.

Chronic myeloid leukemia with variation of translocation at (Ph) [ins (22;9) (q11;q21q34)]: a case report.

PubMed

Wang, Zhiqiong; Zen, Wen; Meng, Fankai; Xin, Xing; Luo, Li; Sun, Hanying; Zhou, Jianfeng; Huang, Lifang

2015-01-01

Chronic myeloid leukemia (CML) is most frequently observed in middle-aged individuals. In most patients, normal marrow cells are replaced by cells with an abnormal G-group chromosome, the Philadelphia (Ph) chromosome. The Ph chromosome that is characterized by the translocation (9;22) (q34;q11) is noted in 90-95% of patients diagnosed with CML. Studies have also shown that CML can be associated with various other cytogenetic abnormalities, with 5-10% of these cases showing complex translocation involving another chromosome in addition to the Ph chromosome. Here, we report the case of a Ph(+) CML patient with an inserted karyotype who presented clinically in the chronic phase but with atypical features. This case highlights the significance of cytogenetic abnormalities on the prognosis in CML.

The Classical Greek Program in the School District of Philadelphia.

ERIC Educational Resources Information Center

Masciantonio, Rudolph

Classical Greek is taught as an elective to over 200 students in seven secondary schools of the School District of Philadelphia. In the past decade the restoration of Greek studies to the classical curriculum was called for, and in 1968 a Greek Curriculum Committee was established in Philadelphia to develop a program and instructional materials.…

Time's Up: Applying Teacher Management Skills to Solving Philadelphia's Problems

ERIC Educational Resources Information Center

Lax, Zach

2013-01-01

Teachers are natural problem solvers, and they should be using this quality to their advantage when it comes to solving the systemic issues that plague Philadelphia's education system. Many of the articles in this issue have already gone into great detail about what is happening in Philadelphia. Torch Lytle has provided a summary of the recent…

In Philadelphia: Pride, Hope and Success.

ERIC Educational Resources Information Center

Holmes, Marion B. W.

1980-01-01

Focusing on successful vocational programs for Blacks, this article describes two differently structured secondary-level schools located in Philadelphia, Pennsylvania: (1) Murrell Dobbins Area Vocational-Technical School and (2) A. Philip Randolph Skills Center. (LRA)

Population-based survey of the prevalence of type 1 and type 2 diabetes in school children in Philadelphia.

PubMed

Lipman, Terri H; Ratcliffe, Sarah J; Cooper, Rhona; Levitt Katz, Lorraine E

2013-12-01

Population-based (PB) registries of type 1 diabetes mellitus (T1DM) in children have been essential in determining the geographic, racial, and temporal patterns of the disease. There is a paucity of PB data on the prevalence of type 1 and type 2 diabetes (T2DM) in youth. The prevalence of diabetes in children was determined using a PB survey of the 628 schools in Philadelphia. Data obtained included type of diabetes, date of birth, race, gender, date of diagnosis, diabetes treatment, and most recent height and weight. The survey was completed by nurses at 510 schools (81% of schools) representing 252,896 children (70% of children in Philadelphia). Prevalence (per 1000) was computed. The survey identified 492 cases (355 T1DM, 88 T2DM, 49 type unknown). The overall prevalence of T1DM was 1.58 (0.73 White, 0.56 African American, 0.50 Hispanic); of T2DM was 0.35 (0.03 White, 0.28 African American, 0.05 Hispanic). Mean age at diagnosis was 8.6 and 11.9 years for T1DM and T2DM, respectively. The prevalence of T1DM was higher in boys--T2DM was higher in girls. Of children with T2DM, 25% were treated with insulin. BMI was ≥95th percentile in 20% of children weighed (10% of T1DM, 57% of T2DM). Although the Philadelphia Pediatric Diabetes Registry is the longest ongoing US registry of its kind, these are the first PB diabetes prevalence data of children in Philadelphia. PB studies in schools are able to capture children with diabetes who are diagnosed and treated in a variety of settings. © 2013 Wiley Publishing Asia Pty Ltd and Ruijin Hospital, Shanghai Jiaotong University School of Medicine.

Blended Learning: Lessons from Best Practice Sites and the Philadelphia Context. PERC Research Brief

ERIC Educational Resources Information Center

Beaver, Jessica K.; Hallar, Brittan; Westmaas, Lucas; Englander, Katie

2015-01-01

The Philadelphia Education Research Consortium--or PERC--was launched in August 2014 as an innovative partnership designed to provide research and analyses on some of the city's most pressing education issues. This partnership was forged among the School District of Philadelphia, Philadelphia's charter school sector, and Research for Action (RFA).…

Philadelphia's Renaissance Schools: A Report on Start up and Early Implementation

ERIC Educational Resources Information Center

Gold, Eva; Good, Deborah; Robertson-Kraft, Claire; Callahan, M. Kate

2011-01-01

In April 2009, Superintendent Arlene Ackerman announced her reform plan for the School District of Philadelphia (the District)--"Imagine 2014". Among other major initiatives, "Imagine 2014" laid the groundwork for Philadelphia's Renaissance Schools Initiative. The Renaissance Initiative, set to enter its second year in 2011-12,…

Philadelphia Printing and Publishing, 1876-1976

ERIC Educational Resources Information Center

Whitehead, Thomas M.

1976-01-01

Two Philadelphia printing histories, both reflecting the relationship of printing to publishing, are examined in this article: the manufacture by the publisher of his own product and the development and commercialization of the photomechanical halftone process. (Author)

Building 21: B21 Philadelphia

ERIC Educational Resources Information Center

EDUCAUSE, 2015

2015-01-01

As a non-selective neighborhood high school in the School District of Philadelphia, B21's mission is to empower networks of learners to connect with their passions and build agency to impact their world. Building 21 is organized into studios, workshops, and advisories. Core studios engage students in project-based learning. Blended learning…

Is early-onset microsatellite and chromosomally stable colorectal cancer a hallmark of a genetic susceptibility syndrome?

PubMed

Kets, C M; van Krieken, J H J M; van Erp, P E J; Feuth, T; Jacobs, Y H A; Brunner, H G; Ligtenberg, M J L; Hoogerbrugge, N

2008-02-15

Most colorectal cancers show either microsatellite or chromosomal instability. A subset of colorectal cancers, especially those diagnosed at young age, is known to show neither of these forms of genetic instability and thus might have a distinct pathogenesis. Colorectal cancers diagnosed at young age are suggestive for hereditary predisposition. We investigate whether such early-onset microsatellite and chromosomally stable colorectal cancers are a hallmark of a genetic susceptibility syndrome. The ploidy status of microsatellite stable (familial) colorectal cancers of patients diagnosed before age 50 (n = 127) was analyzed in relation to the histopathological characteristics and family history. As a control the ploidy status of sporadic colorectal cancer, with normal staining of mismatch repair proteins, diagnosed at the age of 69 years or above (n = 70) was determined. A diploid DNA content was used as a marker for chromosomal stability. Within the group of patients with (familial) early onset microsatellite stable colorectal cancer the chromosomally stable tumors did not differ from chromosomally unstable tumors with respect to mean age at diagnosis, fulfillment of Amsterdam criteria or pathological characteristics. Segregation analysis did not reveal any family with microsatellite and chromosomally stable colorectal cancer in 2 relatives. The prevalence of microsatellite and chromosomally stable colorectal cancer was not significantly different for the early and late onset group (28 and 21%, respectively). We find no evidence that early-onset microsatellite and chromosomally stable colorectal cancer is a hallmark of a hereditary colorectal cancer syndrome. (c) 2007 Wiley-Liss, Inc.

76 FR 19518 - Notice of Intent to Rule on Request To Release Airport Property at the Northeast Philadelphia...

Federal Register 2010, 2011, 2012, 2013, 2014

2011-04-07

... To Release Airport Property at the Northeast Philadelphia Airport (PNE), Philadelphia, PA AGENCY: Federal Aviation Administration (FAA), DOT. ACTION: Notice of request to release airport property. SUMMARY... Philadelphia Airport, Philadelphia, Pennsylvania under the provisions of Section 47125(a) of Title 49 United...

The State of Black Philadelphia 1982.

ERIC Educational Resources Information Center

Lewis, Claude, Ed.; Perry, Carrolle, Ed.

The articles in this report describe current social conditions of blacks in Philadelphia, Pennsylvania, and examine how government policies can affect such conditions. Brenda Maisha Jefferson Jackson discusses black housing opportunities and the negative impact of racial discrimination, political powerlessness, and economics on these…

The urban forests of Philadelphia

Treesearch

David J. Nowak; Allison R. Bodine; Robert Hoehn; Alexis Ellis; Sarah C. Low; Lara A. Roman; Jason G. Henning; Emily Stephan; Tom Taggert; Ted Endreny

2016-01-01

An analysis of the urban forest in Philadelphia, Pennsylvania, reveals that this city has an estimated 2.9 million trees (encompassing all woody plants greater than 1 inch diameter at breast height [d.b.h]) with tree canopy that covers 20 percent of the city. The most common tree species are spicebush, black cherry, ash, tree-of-heaven, and boxelder, but the most...

Survival implications of molecular heterogeneity in variant Philadelphia-positive chronic myeloid leukaemia.

PubMed

Reid, Alistair G; Huntly, Brian J P; Grace, Colin; Green, Anthony R; Nacheva, Elisabeth P

2003-05-01

The BCR-ABL fusion in chronic myeloid leukaemia (CML) is generated by the Philadelphia (Ph) translocation t(9;22) or, in 10% of patients, variants thereof (vPh). Deletion encompassing the reciprocal product (ABL-BCR) from the derivative chromosome 9 [der(9)] occurs in 15% of all patients, but with greater frequency in vPh patients. Reports of physical separation of ABL-BCR in non-deleted patients, as well as evolution from classical to variant Ph, introduce further heterogeneity to the vPh subgroup and raise the possibility that such translocations may herald disease progression. Survival analyses, however, have thus far yielded contradictory results. We assessed the frequency of der(9) deletions, ABL-BCR abrogation, cytogenetic evolution and cryptic rearrangement in a large cohort of 54 patients with vPh CML. Deletions encompassing ABL-BCR were detected in 37% of patients, consistent with a model in which a greater number of chromosome breaks increases the risk of genomic loss. The components of ABL-BCR were physically separated in a further 52% of patients while fused in the remaining 11%. Evolution from classical to vPh was demonstrated in three patients. The difference in survival, as indicated by Kaplan-Meier analysis, was marked between classical and vPh patients (105 vs 60 months respectively; P = 0.0002). Importantly, this difference disappeared when patients with deletions were removed from the analysis. Our study showed that, despite the existence of several levels of genomic heterogeneity in variant Ph-positive CML, der(9) deletion status is the key prognostic factor.

Adherence to Follow-up Recommendations Among Individuals in the Philadelphia Glaucoma Detection and Treatment Project.

PubMed

Hark, Lisa A; Leiby, Benjamin E; Waisbourd, Michael; Myers, Jonathan S; Fudemberg, Scott J; Mantravadi, Anand V; Dai, Yang; Gilligan, John P; Resende, Arthur F; Katz, L Jay

2017-08-01

To evaluate rates of adherence to free follow-up eye exam appointments among participants in the Philadelphia Glaucoma Detection and Treatment Project. Ophthalmologists and testing equipment were brought directly to participants at risk for glaucoma at 43 community sites in Philadelphia. Those diagnosed with glaucoma-related pathology were recommended to return for follow-up to be reexamined on site. Rates of adherence and clinical and demographic risk factors for adherence were evaluated. Five hundred thirty-one participants were diagnosed with glaucoma-related conditions and recommended to attend community-based follow-up exams. Follow-up adherence rate was 61.2% (n=325/531). Significant factors associated with greater eye exam appointment adherence, based on our univariable analysis, included final diagnosis of glaucoma (risk ratio [RR]=1.33; 95% confidence interval [CI], 1.13-1.57), male sex (RR=1.19; 95% CI, 1.04-1.36), white race (RR=1.26; 95% CI, 1.08-1.48), age (RR=1.17; 95% CI, 1.00-1.37) recommendation for glaucoma medication (RR=1.52; 95% CI, 1.35-1.71), recommendation for laser peripheral iridotomy (RR=1.18; 95% CI, 1.02-1.35), diagnosis of age-related macular degeneration (RR=1.42; 95% CI, 1.13-1.77) and an increased intraocular pressure (>22 mm Hg in the worse eye) (RR=1.23; 95% CI, 1.06-1.42). On the basis of our multivariable model, diagnosis, sex, and recommended glaucoma medications were significantly associated with follow-up adherence. This study demonstrates that individuals living in underserved urban communities would take advantage of free eye exams in community sites and return for follow-up eye exams in these same settings. Future studies could investigate interventions to improve eye exam appointment adherence in community-based settings to detect glaucoma-eye conditions.

The use of Imatinib resistance mutation analysis to direct therapy in Philadelphia chromosome/BCR-ABL1 positive chronic myeloid leukaemia patients failing Imatinib treatment, in Patan Hospital, Nepal.

PubMed

Kayastha, Gyan K; Ranjitkar, Nora; Gurung, Radha; Kc, Raj Kumar; Karki, Sanjit; Shrestha, Roshan; Rajbhandari, Piyush; Thapa, Raj K; Poudyal, Buddhi; Acharya, Paras; Roberts, David J; Hayes, Bruce; Zimmerman, Mark; Basnyat, Buddha

2017-06-01

Philadelphia chromosome/BCR-ABL1 positive chronic myeloid leukaemia (CML) can be successfully treated with Glivec (Imatinib), which is available free of cost through the Glivec International Patient Assistance programme (GIPAP) to patients with proven CML without means to pay for the drug. We review the acquired mutations in the tyrosine kinase encoded by the BCR-ABL1 gene underlying Glivec failure or resistance in a cohort of 388 imatinib-treated CML patients (149 Female and 239 male) registered between February 2003 and June 2016 in Nepal. Forty-five patients (11 female 34 male) were studied; 18 different BCR-ABL1 mutations were seen in 33 patients. P-loop mutation, Kinase domain and A-loop mutations were seen in 9, 16 and 4 patients respectively. Other mutations were seen in five patients. A T315I mutation was the most common mutation, followed by F359V and M244V. Sixteen mutations showed intermediate activity to complete resistance to Glivec. Among the 45 patients evaluated for BCR-ABL1 mutations, 4 were lost to follow-up, 14 died and 27 are still alive. Among the surviving patients, 16 are receiving Nilotinib, 5 Dasatinib and 3 Ponatinib, while 3 patients were referred to India, one of who received allogenic bone marrow transplantation. Understanding the spectrum of further acquired mutations in BCR-ABL1 may help to choose more specific targeted tyrosine kinase inhibitors that can be provided by GIPAP. © 2017 John Wiley & Sons Ltd.

RadNet Air Data From Philadelphia, PA

EPA Pesticide Factsheets

This page presents radiation air monitoring and air filter analysis data for Philadelphia, PA from EPA's RadNet system. RadNet is a nationwide network of monitoring stations that measure radiation in air, drinking water and precipitation.

Lessons learned while building a trauma-informed public behavioral health system in the City of Philadelphia

PubMed Central

Beidas, Rinad S.; Adams, Danielle R.; Kratz, Hilary E.; Jackson, Kamilah; Berkowitz, Steven; Zinny, Arturo; Cliggitt, Lauren Pilar; DeWitt, Kathryn L.; Skriner, Laura; Evans, Arthur

2016-01-01

Exposure to traumatic experiences among youth is a serious public health concern. A trauma-informed public behavioral health system that emphasizes core principles such as understanding trauma, promoting safety, supporting consumer autonomy, sharing power, and ensuring cultural competence, is needed to support traumatized youth and the providers who work with them. This article describes a case study of the creation and evaluation of a trauma-informed publicly funded behavioral health system for children and adolescents in the City of Philadelphia (the Philadelphia Alliance for Child Trauma Services; PACTS) using the Exploration, Preparation, Implementation, and Sustainment (EPIS) as a guiding framework. We describe our evaluation of this effort with an emphasis on implementation determinants and outcomes. Implementation determinants include inner context factors, specifically therapist knowledge and attitudes (N = 114) towards evidence-based practices. Implementation outcomes include information on rate of PTSD diagnoses in agencies over time, number of youth receiving TF-CBT over time, and penetration (i.e., number of youth receiving TF-CBT divided by the number of youth screening positive on trauma screening). We describe lessons learned from our experiences building a trauma-informed public behavioral health system in the hopes that this case study can guide other similar efforts. PMID:27501466

Alemtuzumab and Combination Chemotherapy in Treating Patients With Untreated Acute Lymphoblastic Leukemia

ClinicalTrials.gov

2014-03-20

Acute Undifferentiated Leukemia; B-cell Adult Acute Lymphoblastic Leukemia; B-cell Childhood Acute Lymphoblastic Leukemia; L1 Adult Acute Lymphoblastic Leukemia; L1 Childhood Acute Lymphoblastic Leukemia; L2 Adult Acute Lymphoblastic Leukemia; L2 Childhood Acute Lymphoblastic Leukemia; Philadelphia Chromosome Negative Adult Precursor Acute Lymphoblastic Leukemia; Philadelphia Chromosome Positive Adult Precursor Acute Lymphoblastic Leukemia; Philadelphia Chromosome Positive Childhood Precursor Acute Lymphoblastic Leukemia; T-cell Adult Acute Lymphoblastic Leukemia; T-cell Childhood Acute Lymphoblastic Leukemia; Untreated Adult Acute Lymphoblastic Leukemia; Untreated Childhood Acute Lymphoblastic Leukemia

Evaluating the Performance of Philadelphia's Charter Schools. Working Paper WR-550-WPF

ERIC Educational Resources Information Center

Zimmer, Ron; Blanc, Suzanne; Gill, Brian; Christman, Jolley

2008-01-01

Plagued by long-term poor student outcomes, a number of reforms have been implemented within the Philadelphia School District to improve performance, including the use of charter schools. The number of charter schools in Philadelphia has risen from four to more than 60 over the past decade, and these schools now serve over 30,000 students. Debate…

78 FR 14359 - Verizon Business Networks Services, Inc., Specialist-Tech Customer Service, Philadelphia, PA...

Federal Register 2010, 2011, 2012, 2013, 2014

2013-03-05

... Business Networks Services, Inc., Specialist-Tech Customer Service, Philadelphia, PA; Verizon Business Networks Services, Inc., Specialist-Tech Customer Service, Tampa, Florida; Amended Certification Regarding... Business Networks Services, Inc., Order Management Division, Philadelphia, Pennsylvania and Verizon...

South Philadelphia Passive Sampler and Sensor Study

EPA Science Inventory

Starting in June 2013, the United States Environmental Protection Agency (U.S. EPA) and the City of Philadelphia Air Measurements Services began collaborative research on the use of passive samplers (PSs) and stand-alone air measurement (SAM) systems to improve information on the...

A Snapshot of Philadelphia's Accelerated Schools

ERIC Educational Resources Information Center

Edmunds, Kimberly; Fonseca, Ean

2011-01-01

This snapshot is a guide to the School District of Philadelphia's (the District's) 13 accelerated high schools in the 2010-11 school year. The accelerated high schools were the result of a partnership between the District and Project U-Turn, a city-wide coalition dedicated to reducing student drop-out and increasing graduation rates and readiness…

South Philadelphia Passive Sampler and Sensor Study

EPA Science Inventory

From June 2013 to March 2015, a total of 41 two-week duration passive sampler deployments were conducted at 17 sites in South Philadelphia, with results for benzene discussed here. Complementary time-resolved measurements with lower cost prototype fenceline sensors and an open-pa...

CD19 CAR T Cells for B Cell Malignancies After Allogeneic Transplant

ClinicalTrials.gov

2017-02-14

Philadelphia Chromosome Negative Adult Precursor Acute Lymphoblastic Leukemia; Philadelphia Chromosome Positive Adult Precursor Acute Lymphoblastic Leukemia; Recurrent Adult Acute Lymphoblastic Leukemia; Recurrent Adult Diffuse Large Cell Lymphoma; Recurrent Adult Immunoblastic Large Cell Lymphoma; Recurrent Mantle Cell Lymphoma; Refractory Chronic Lymphocytic Leukemia

Transfer Opportunities Program: Community College of Philadelphia.

ERIC Educational Resources Information Center

McGrath, Dennis

The Transfer Opportunities Program (TOP) at the Community College of Philadelphia (CCP) has focused primarily on faculty development and curriculum design as the essential elements in improving the transfer prospects of students. Extensive faculty development activities were undertaken to forge collegial agreements about standards of literacy and…

Philadelphia's Renaissance Schools Initiative after Four Years

ERIC Educational Resources Information Center

Stratos, Kati; Wolford, Tonya; Reitano, Adrienne

2015-01-01

In 2010-2011, the School District of Philadelphia (the District) launched its Renaissance Schools Initiative, a program designed to dramatically improve student achievement in the District's lowest performing schools. Some schools became Promise Academies, based on the federal turnaround model, and remained District-operated neighborhood schools.…

Community Organizing for School Reform in Philadelphia.

ERIC Educational Resources Information Center

Mediratta, Kavitha; Fruchter, Norm; Gross, Barbara; Keller, Christine Donis; Bonilla, Mili

Pennsylvania's Philadelphia School District has a high percentage of minority, bilingual, and low-income students and suffers from low student achievement, chaotic instructional organization, teacher shortage, dilapidated school facilities, and lack of accountability. Six community organizing groups are working with parents and youth for local and…

A conceptual weather-type classification procedure for the Philadelphia, Pennsylvania, area

USGS Publications Warehouse

McCabe, Gregory J.

1990-01-01

A simple method of weather-type classification, based on a conceptual model of pressure systems that pass through the Philadelphia, Pennsylvania, area, has been developed. The only inputs required for the procedure are daily mean wind direction and cloud cover, which are used to index the relative position of pressure systems and fronts to Philadelphia.Daily mean wind-direction and cloud-cover data recorded at Philadelphia, Pennsylvania, from January 1954 through August 1988 were used to categorize daily weather conditions. The conceptual weather types reflect changes in daily air and dew-point temperatures, and changes in monthly mean temperature and monthly and annual precipitation. The weather-type classification produced by using the conceptual model was similar to a classification produced by using a multivariate statistical classification procedure. Even though the conceptual weather types are derived from a small amount of data, they appear to account for the variability of daily weather patterns sufficiently to describe distinct weather conditions for use in environmental analyses of weather-sensitive processes.

Amachi: Mentoring Children of Prisoners in Philadelphia.

ERIC Educational Resources Information Center

Jucovy, Linda

This report documents the work of Amachi, a mentoring program for children of incarcerated and formerly incarcerated parents in Philadelphia, Pennsylvania. Volunteers are recruited from inner-city congregations to provide one-to-one mentoring to the children. Beyond being the source of mentors, the congregations are a key part of the initiative.…

Grow Your Own School Leaders: A Case Study of Principal Development in Philadelphia Schools

ERIC Educational Resources Information Center

Urban Education Collaborative, 2010

2010-01-01

In 2004-05, the School District of Philadelphia (SDP) began a groundbreaking partnership with the Eli Broad Foundation to develop the Academy for Leadership in Philadelphia Schools (ALPS), one of several Broad-funded, alternative principal development programs initiated across the country. The ALPS effort was designed to respond to two challenges:…

[Hungarian Philadelphia negative chronic myeloproliferative neoplasia registry. Evaluation of the Polycythemia vera patients].

PubMed

Dombi, Péter; Illés, Árpád; Demeter, Judit; Homor, Lajos; Simon, Zsófia; Kellner, Ádám; Karádi, Éva; Valasinyószki, Erika; Udvardy, Miklós; Egyed, Miklós

2017-06-01

Intruduction and aim: The Hungarian National Registry for Philadelphia chromosome negative myeloproliferative neoplasms has been developed. The aim of the recent study is to assess the clinical characteristics of Hungarian patients with polycythemia vera. Data of 351 JAK2 V617F and exon 12 mutation positive polycythemia vera patients were collected online from 15 haematology centres reporting epidemiologic, clinical characteristics, diagnostic tools, therapeutic interventions, thromboembolic complications, disease transformations. Vascular events prior to and after diagnosis were evaluated upon the Landolfi risk assessment scale. 116 thromboembolic events were reported in 106 PV patients prior to diagnosis and 152 occasions in 102 patients during follow-up. The frequency of major arterial events were significantly reduced (p<0.0001) and the minor venous events were significantly elevated (p<0.0001) after the diagnosis. Major hemorrhagic complications were found in 25 and transformation in 26 cases. Our registry allows to collect and evaluate the features of patients with polycythemia vera. The Landolfi risk stratification was proven to be useful. Based on evaluated data, accuracy of diagnostic criteria and compliance to risk-adapted therapeutic guidelines are needed. Orv Hetil. 2017; 158(23): 901-909.

XYY chromosome abnormality in sexual homicide perpetrators.

PubMed

Briken, Peer; Habermann, Niels; Berner, Wolfgang; Hill, Andreas

2006-03-05

In a retrospective investigation of the court reports about sexual homicide perpetrators chromosome analysis had been carried out in 13 of 166 (7.8%) men. Three men (1.8%) with XYY chromosome abnormality were found. This rate is much higher than that found in unselected samples of prisoners (0.7-0.9%) or in the general population (0.01%). The three men had shown prepubescent abnormalities, school problems, and had suffered from physical abuse. The chromosome analysis in all cases had been carried out in connection with the forensic psychiatric court report due to the sexual homicide. However, two men had earlier psychiatric referrals. All were diagnosed as sexual sadistic, showed a psychopathic syndrome or psychopathy according to the Psychopathy Checklist-Revised [Hare RD, 1991, The Hare Psychopathy Checklist-Revised, Toronto, Ontario, Canada: Multi-Health Systems]. Two were multiple murderers. Especially forensic psychiatrists should be vigilant of the possibility of XYY chromosome abnormalities in sexual offenders. (c) 2006 Wiley-Liss, Inc.

Philadelphia's Independence Starts Here: Disability Arts Festival

ERIC Educational Resources Information Center

Smith, Mimi Kenney

2008-01-01

In tribute to Philadelphia's world-changing past, Festival partners dubbed the month-long Disability Arts Festival "Independence Starts Here." Through it, they hoped to begin to change the future for over 675,000 people with disabilities in the area and their families. Led by Amaryllis Theatre Company, which now also serves as VSA arts…

Blinatumomab and Combination Chemotherapy or Dasatinib, Prednisone, and Blinatumomab in Treating Older Patients With Acute Lymphoblastic Leukemia

ClinicalTrials.gov

2018-06-01

Acute Lymphoblastic Leukemia; B Acute Lymphoblastic Leukemia; B Acute Lymphoblastic Leukemia With t(9;22)(q34.1;q11.2); BCR-ABL1; B Acute Lymphoblastic Leukemia, Philadelphia Chromosome Negative; Philadelphia Chromosome Positive; Recurrent Adult Acute Lymphoblastic Leukemia; Refractory Adult Acute Lymphoblastic Leukemia; Untreated Adult Acute Lymphoblastic Leukemia

Encouraging Education in an Urban School District: Evidence from the Philadelphia Educational Longitudinal Study

ERIC Educational Resources Information Center

Furstenberg, Frank F., Jr.; Neumark, David

2007-01-01

We study a set of programs implemented in Philadelphia high schools that focus on boosting high school graduation, and especially college attendance, using data from the Philadelphia Educational Longitudinal Study (PELS). We examine the effects of these programs on a set of schooling-related outcomes during and after high school. The PELS data-set…

Imatinib Intolerance Is Associated With Blastic Phase Development in Philadelphia Chromosome-Positive Chronic Myeloid Leukemia.

PubMed

Ángeles-Velázquez, Jorge Luis; Hurtado-Monroy, Rafael; Vargas-Viveros, Pablo; Carrillo-Muñoz, Silvia; Candelaria-Hernández, Myrna

2016-08-01

Over the past years, the survival of patients with Philadelphia-positive chronic myeloid leukemia (CML Ph(+)) has increased as a result of therapy with tyrosin kinase inhibitors (TKIs). Intolerance to TKIs has been described in approximately 20% of patients receiving treatment. We studied the incidence of imatinib intolerance in patients with CML Ph(+) and their outcome in our CML reference site, as there is no information about the evolution of patients intolerant to TKIs. A group of 86 patients with CML Ph(+) receiving imatinib monotherapy who abandoned treatment were the basis for this study. We present the trends of their disease evolution. The median of age at diagnosis was 42 years. Within a year, 19 (22%) of 86 patients developed imatinib intolerance, all of them with grade III or IV disease that required imatinib dose reduction or discontinuation. Of these patients, 16 (84%) of 19 developed transformation to blastic phase. The cumulative incidences of blastic phase development were 47% in the nonintolerant group and 84% in the intolerant group. There was a relative risk for those with imatinib intolerance to develop blastic phase of 1.78 (95% confidence interval, 1.28 to 2.42) (P < .05). Most imatinib-intolerant patients develop blastic phase transformation, with a poor survival of 3 to 6 months; no effective rescue treatment is available. Future research should to determine whether the origin of this evolution is really due to the intolerance itself or whether it is due to a more aggressive form of the disease, perhaps related to genetic transformation. Copyright © 2016 Elsevier Inc. All rights reserved.

The Philadelphia School District's Ongoing Financial Crisis

ERIC Educational Resources Information Center

Caskey, John; Kuperberg, Mark

2014-01-01

This article describes the budget crisis that the School District of Philadelphia has faced for the past few years. Three specific events triggered the 2012 crisis: an abrupt reduction in federal and state funding, the inability of the district to cut many of its costs, and political pressures on the district to spend available revenues in a given…

Strengthening Career and Technical Education and 21st Century Skills in Philadelphia. Executive Summary

ERIC Educational Resources Information Center

Philadelphia Youth Network, 2009

2009-01-01

In Spring 2007, the John S. and James L. Knight Foundation awarded funds to the Philadelphia Youth Network (PYN) to undertake an analysis of Career and Technical Education (CTE) in Philadelphia, and to make recommendations on how CTE and other forms of career-connected education could better align with high-wage/high-demand jobs in the regional…

An Analysis of the Effect of Children Achieving on Student Achievement in Philadelphia Elementary Schools.

ERIC Educational Resources Information Center

Tighe, Erin; Wang, Aubrey; Foley, Ellen

This report presents findings from an evaluation of Philadelphia's Children Achieving reform agenda, which was designed to improve the Philadelphia public schools. Between 1995-1996 and 2000-2001, interviews were conducted with hundreds of teachers, principals, parents, students, district officials, and civic leaders. Researchers sat in on…

75 FR 80568 - Proposed Modification of the Philadelphia, PA, Class B Airspace Area; Public Meetings

Federal Register 2010, 2011, 2012, 2013, 2014

2010-12-22

... airspace at Philadelphia, PA. The name and phone number of the person to contact for further information... Class B airspace at Philadelphia, PA (75 FR 74127). The name and phone number of the person to contact... 74127, column two, make the following correction: FOR FURTHER INFORMATION CONTACT: Dennis Sweeney...

Actionable Intelligence about Early Childhood Risks in Philadelphia

ERIC Educational Resources Information Center

LeBoeuf, Whitney A.; Barghaus, Katherine; Fantuzzo, John; Coe, Kristen; Brumley, Benjamin

2016-01-01

"Early childhood risks" are markers of early childhood experiences that extensive research has shown to be detrimental to later academic and behavioral outcomes. In Philadelphia, evidence indicates that seven early childhood risks tracked by public agencies have negative effects on early school outcomes. These risks include low…

How Do Health Care Providers Diagnose Klinefelter Syndrome?

MedlinePlus

... and when a diagnosis occurs: Few newborns and boys are tested for or diagnosed with KS. Although newborns in the United States are screened for some conditions, they are not screened for XXY or other sex-chromosome differences. In childhood, symptoms can be subtle ...

An Overview on Prenatal Screening for Chromosomal Aberrations.

PubMed

Hixson, Lucas; Goel, Srishti; Schuber, Paul; Faltas, Vanessa; Lee, Jessica; Narayakkadan, Anjali; Leung, Ho; Osborne, Jim

2015-10-01

This article is a review of current and emerging methods used for prenatal detection of chromosomal aneuploidies. Chromosomal anomalies in the developing fetus can occur in any pregnancy and lead to death prior to or shortly after birth or to costly lifelong disabilities. Early detection of fetal chromosomal aneuploidies, an atypical number of certain chromosomes, can help parents evaluate their pregnancy options. Current diagnostic methods include maternal serum sampling or nuchal translucency testing, which are minimally invasive diagnostics, but lack sensitivity and specificity. The gold standard, karyotyping, requires amniocentesis or chorionic villus sampling, which are highly invasive and can cause abortions. In addition, many of these methods have long turnaround times, which can cause anxiety in mothers. Next-generation sequencing of fetal DNA in maternal blood enables minimally invasive, sensitive, and reasonably rapid analysis of fetal chromosomal anomalies and can be of clinical utility to parents. This review covers traditional methods and next-generation sequencing techniques for diagnosing aneuploidies in terms of clinical utility, technological characteristics, and market potential. © 2015 Society for Laboratory Automation and Screening.

De Renatu Linguarum Antiquarum in Scholis Publicis Philadelphiae (On the Revival of Classical Languages in the Public Schools of Philadelphia)

ERIC Educational Resources Information Center

Masciantonio, Rudolph

1977-01-01

The enrollment in Latin and Greek classes in the Philadelphia public schools has increased greatly in the last ten years. Courses are offered in elementary as well as secondary schools. An audiolingual approach is used. Available from Universitaet des Saarlandes, Fachbereich 6.2, D-6600 Saarbrueken, West Germany. (Text is in Latin.) (CFM)

A Summary of Six Major Evaluation Reports on Follow Through in Philadelphia, 1973-l1974.

ERIC Educational Resources Information Center

Goodwin, Judith

This report is a non-technical summary of six major evaluation reports on the Follow Through Program in Philadelphia, 1973-74. Positive findings are presented in the areas of pupil achievement, teacher and pupil continuance and pupil absence, and supportive services and parent involvement. The Follow Through Program in Philadelphia is comprised of…

Prevalence of uncorrected refractive errors among school-age children in the School District of Philadelphia.

PubMed

Mayro, Eileen L; Hark, Lisa A; Shiuey, Eric; Pond, Michael; Siam, Linda; Hill-Bennett, Tamara; Tran, Judie; Khanna, Nitasha; Silverstein, Marlee; Donaghy, James; Zhan, Tingting; Murchison, Ann P; Levin, Alex V

2018-06-01

To determine the prevalence and severity of uncorrected refractive errors in school-age children attending Philadelphia public schools. The Wills Eye Vision Screening Program for Children is a community-based pediatric vision screening program designed to detect and correct refractive errors and refer those with nonrefractive eye diseases for examination by a pediatric ophthalmologist. Between January 2014 and June 2016 the program screened 18,974 children in grades K-5 in Philadelphia public schools. Children who failed the vision screening were further examined by an on-site ophthalmologist or optometrist; children whose decreased visual acuity was not amenable to spectacle correction were referred to a pediatric ophthalmologist. Of the 18,974 children screened, 2,492 (13.1%) exhibited uncorrected refractive errors: 1,776 (9.4%) children had myopia, 459 (2.4%) had hyperopia, 1,484 (7.8%) had astigmatism, and 846 (4.5%) had anisometropia. Of the 2,492 with uncorrected refractive error, 368 children (14.8%) had more than one refractive error diagnosis. In stratifying refractive error diagnoses by severity, mild myopia (spherical equivalent of -0.50 D to < -3.00 D) was the most common diagnosis, present in 1,573 (8.3%) children. In this urban population 13.1% of school-age children exhibited uncorrected refractive errors. Blurred vision may create challenges for students in the classroom; school-based vision screening programs can provide an avenue to identify and correct refractive errors. Copyright © 2018 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

Imatinib use immediately before stem cell transplantation in children with Philadelphia chromosome-positive acute lymphoblastic leukemia: Results from Japanese Pediatric Leukemia/Lymphoma Study Group (JPLSG) Study Ph(+) ALL04.

PubMed

Manabe, Atsushi; Kawasaki, Hirohide; Shimada, Hiroyuki; Kato, Itaru; Kodama, Yuichi; Sato, Atsushi; Matsumoto, Kimikazu; Kato, Keisuke; Yabe, Hiromasa; Kudo, Kazuko; Kato, Motohiro; Saito, Tomohiro; Saito, Akiko M; Tsurusawa, Masahito; Horibe, Keizo

2015-05-01

Incorporation of imatinib into chemotherapeutic regimens has improved the prognosis of children with Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph(+) ALL). We investigated a role of imatinib immediately before hematopoietic stem cell transplantation (HSCT). Children with Ph(+) ALL were enrolled on JPLSG Ph(+) ALL 04 Study within 1 week of initiation of treatment for ALL. Treatment regimen consisted of Induction phase, Consolidation phase, Reinduction phase, 2 weeks of imatinib monotherapy phase, and HSCT phase (Etoposide+CY+TBI conditioning). Minimal residual disease (MRD), the amount of BCR-ABL transcripts, was measured with the real-time PCR method. The study was registered in UMIN-CTR: UMIN ID C000000290. Forty-two patients were registered and 36 patients (86%) achieved complete remission (CR). Eight of 17 patients (47%) who had detectable MRD at the beginning of imatinib monotherapy phase showed disappearance or decrease in MRD after imatinib treatment. Consequently, 26 patients received HSCT in the first CR and all the patients had engraftment and no patients died because of complications of HSCT. The 4-year event-free survival rates and overall survival rates among all the 42 patients were 54.1 ± 7.8% and 78.1 ± 6.5%, respectively. Four of six patients who did achieve CR and three of six who relapsed before HSCT were salvaged with imatinib-containing chemotherapy and subsequently treated with HSCT. The survival rate was excellent in this study although all patients received HSCT. A longer use of imatinib concurrently with chemotherapy should eliminate HSCT in a subset of patients with a rapid clearance of the disease. © 2015 The Authors. Cancer Medicine published by John Wiley & Sons Ltd.

Philadelphia Infirmary for Nervous Diseases: America's original model of institutional neurology.

PubMed

Pappert, E J

1998-06-01

The role and contributions of the Philadelphia Orthopedic Hospital and Infirmary for Nervous Diseases in the development of neurology in 19th-century America are described. American neurology was largely born during the Civil War through the work of S.W. Mitchell at Turner's Lane Hospital. With the closing of this military facility, the United States was left without an institution dedicated to neurologic research and the treatment of nervous system diseases. Nineteenth century archival data, including original Trustees' minutes, annual board of managers reports, patient case books, and published research from the Philadelphia Orthopedic Hospital and Infirmary for Nervous Diseases were studied. The Philadelphia Orthopedic Hospital and Infirmary for Nervous Diseases promoted the development of neurology in the United States through three main activities. First, it offered patients with primary nervous system diseases, arthritis, and orthopedic disorders specialized care that was unavailable at medical universities. Second, its medical staff, especially Mitchell, provided opportunities for advanced neurologic education. Postgraduate physicians interested in neurologic disease attended formal lectures and directly participated in the operation of outpatient clinics and inpatient rounds. Finally, its formalized record system in the form of case books facilitated neurologic research. These records formed the basis of landmark publications by Mitchell, Sinkler, Osler, and others on rest therapy, spastic palsies, chorea, and other topics. As America's first and comprehensive peacetime neurologic facility, the Philadelphia Orthopedic Hospital and Infirmary for Nervous Diseases fostered the evolution of neurology as a separate, viable specialty in the post-Civil War period and provided a particular focus for the study of interactions among orthopedic, nutritional, and neurologic disorders.

Lodging Management Career Questionnaire of Greater Philadelphia Area.

ERIC Educational Resources Information Center

Bennett, Robert C., Jr.; Wetzel, Susan J.

A survey was undertaken by Delaware County Community College's (Pennsylvania) Hotel/Restaurant Management program: (1) to provide students with local up-to-date information regarding the lodging industry in the Greater Philadelphia area; and (2) to provide information regarding necessary skills as perceived by the managers for the purpose of…

How Students Are Leading Us: Youth Organizing and the Fight for Public Education in Philadelphia

ERIC Educational Resources Information Center

Conner, Jerusha; Rosen, Sonia

2013-01-01

Philadelphia has a rich history of high school student activism, stretching back to 1967, when 3,500 Philadelphia students walked out of their schools, marched to the Board of Education, and demanded the addition of black history courses taught by black teachers, the removal of police from high schools, and an increase in the hiring of black…

South Philadelphia Passive Sampler and Sensor Study: Interim Report

EPA Science Inventory

Starting in June 2013, the United States Environmental Protection Agency (U.S. EPA) and the City of Philadelphia Air Measurements Services began collaborative research on the use of passive samplers (PSs) and stand-alone air measurement (SAM) systems to improve information on the...

WorkReady Philadelphia: Preparing Youth for Job Readiness

ERIC Educational Resources Information Center

Pawlowski, Brett

2010-01-01

One of the great concerns of the business community involves the workforce pipeline: employers want to be sure that new entries into the labor pool, whether from the K-12 or postsecondary systems, are prepared for the jobs that await them. In Philadelphia, business and community leaders have joined forces to give students workplace learning…

South Philadelphia Passive Sampler and Sensor Study - Interim Report

EPA Science Inventory

Starting in the June 2013, the U.S. EPA and the City of Philadelphia Air Measurements Services (AMS) began a collaborative research project to investigate how sensor-based, stand-alone air measurements (SAMs) and passive samplers (PSs) can help improve information on air pollutan...

Prader-Willi-like phenotypes: a systematic review of their chromosomal abnormalities.

PubMed

Rocha, C F; Paiva, C L A

2014-03-31

Prader-Willi syndrome (PWS) is caused by the lack of expression of genes located on paternal chromosome 15q11-q13. This lack of gene expression may be due to a deletion in this chromosomal segment, to maternal uniparental disomy of chromosome 15, or to a defect in the imprinting center on 15q11-q13. PWS is characterized by hypotonia during the neonatal stage and in childhood, accompanied by a delay in neuropsychomotor development. Overeating, obesity, and mental deficiency arise later on. The syndrome has a clinical overlap with other diseases, which makes it difficult to accurately diagnose. The purpose of this article is to review the Prader-Willi-like phenotype in the scientific literature from 2000 to 2013, i.e., to review the cases of PWS caused by chromosomal abnormalities different from those found on chromosome 15. A search was carried out using the "National Center for Biotechnology Information" (www.pubmed.com) and "Scientific Electronic Library Online (www.scielo.br) databases and combinations of key words such as "Prader-Willi-like phenotype" and "Prader-Willi syndrome phenotype". Editorials, letters, reviews, and guidelines were excluded. Articles chosen contained descriptions of patients diagnosed with the PWS phenotype but who were negative for alterations on 15q11-q13. Our search found 643 articles about PWS, but only 14 of these matched with the Prader-Willi-like phenotype and with the selected years of publication (2000-2013). If two or more articles reported the same chromosomal alterations for Prader-Willi-like phenotype, the most recent was chosen. Twelve articles of 14 were case reports and 2 reported series of cases.

Technique of laser chromosome welding for chromosome repair and artificial chromosome creation.

PubMed

Huang, Yao-Xiong; Li, Lin; Yang, Liu; Zhang, Yi

2018-04-01

Here we report a technique of laser chromosome welding that uses a violet pulse laser micro-beam for welding. The technique can integrate any size of a desired chromosome fragment into recipient chromosomes by combining with other techniques of laser chromosome manipulation such as chromosome cutting, moving, and stretching. We demonstrated that our method could perform chromosomal modifications with high precision, speed and ease of use in the absence of restriction enzymes, DNA ligases and DNA polymerases. Unlike the conventional methods such as de novo artificial chromosome synthesis, our method has no limitation on the size of the inserted chromosome fragment. The inserted DNA size can be precisely defined and the processed chromosome can retain its intrinsic structure and integrity. Therefore, our technique provides a high quality alternative approach to directed genetic recombination, and can be used for chromosomal repair, removal of defects and artificial chromosome creation. The technique may also have applicability on the manipulation and extension of large pieces of synthetic DNA.

Before The Philadelphia Negro: Residential Segregation in a Nineteenth-Century Northern City

PubMed Central

Logan, John R.; Bellman, Benjamin

2017-01-01

Although some scholars treat racial residential segregation in Northern cities as a twentieth-century phenomenon, recent research on New York and Chicago has shown that black-white segregation was already high and rising by 1880. We draw on data from the Philadelphia Social History Project and other new sources to study trends in this city as far back as 1850 and extending to 1900, a time when DuBois had completed his epic study of The Philadelphia Negro. Segregation of “free Negroes” in Philadelphia was high even before the Civil War but did not increase as the total and black populations grew through 1900. Geocoded information from the full-count data from the 1880 Census makes it possible to map the spatial configuration of black residents in fine detail. At the scale of the street segment, segregation in that year was extraordinarily high, reflecting a micro-pattern in which many blacks lived in alleys and short streets. Although there was considerable class variation in the black community, higher status black households lived in areas that were little different in racial and class composition than lower status households. PMID:29056796

Career Access Models: The Philadelphia Minorities in Engineering Consortium.

ERIC Educational Resources Information Center

McLaughlin, W. Barry

The Philadelphia Regional Introduction for Minorities to Engineering (PRIME) program, a nonprofit consortium of colleges, public schools, business/industry, government, and community agencies, is described. The pre-engineering program begins in the seventh grade and continues to track students through their college years. At the middle schools,…

Cancer Cytogenetics: Methodology Revisited

PubMed Central

2014-01-01

The Philadelphia chromosome was the first genetic abnormality discovered in cancer (in 1960), and it was found to be consistently associated with CML. The description of the Philadelphia chromosome ushered in a new era in the field of cancer cytogenetics. Accumulating genetic data have been shown to be intimately associated with the diagnosis and prognosis of neoplasms; thus, karyotyping is now considered a mandatory investigation for all newly diagnosed leukemias. The development of FISH in the 1980s overcame many of the drawbacks of assessing the genetic alterations in cancer cells by karyotyping. Karyotyping of cancer cells remains the gold standard since it provides a global analysis of the abnormalities in the entire genome of a single cell. However, subsequent methodological advances in molecular cytogenetics based on the principle of FISH that were initiated in the early 1990s have greatly enhanced the efficiency and accuracy of karyotype analysis by marrying conventional cytogenetics with molecular technologies. In this review, the development, current utilization, and technical pitfalls of both the conventional and molecular cytogenetics approaches used for cancer diagnosis over the past five decades will be discussed. PMID:25368816

TransitChek in the New York City and Philadelphia Areas

DOT National Transportation Integrated Search

1995-10-01

This report documents the history and current operation of the TransitCheck : programs in the New York City and Philadelphia areas, evaluates their impacts : on local commuters and operators, and assesses how well they have achieved the : goals of th...

Item Response Theory Modeling of the Philadelphia Naming Test

ERIC Educational Resources Information Center

Fergadiotis, Gerasimos; Kellough, Stacey; Hula, William D.

2015-01-01

Purpose: In this study, we investigated the fit of the Philadelphia Naming Test (PNT; Roach, Schwartz, Martin, Grewal, & Brecher, 1996) to an item-response-theory measurement model, estimated the precision of the resulting scores and item parameters, and provided a theoretical rationale for the interpretation of PNT overall scores by relating…

Systemwide Implementation of Project-Based Learning: The Philadelphia Approach

ERIC Educational Resources Information Center

Schwalm, Jason; Tylek, Karen Smuck

2012-01-01

Citywide implementation of project-based learning highlights the benefits--and the challenges--of promoting exemplary practices across an entire out-of-school time (OST) network. In summer 2009, the City of Philadelphia and its intermediary, the Public Health Management Corporation (PHMC), introduced project-based learning to a network of more…

A Research Brief: "Principals' Hiring of Teachers in Philadelphia"

ERIC Educational Resources Information Center

Ramirez, Heidi A.; Schofield, Lynne Steuerle; Black, Melissa

2008-01-01

The School District of Philadelphia (SDP), like many other urban school districts, struggles to increase its hiring and retention of experienced and highly qualified teachers in its low-performing/high-need schools. Excluding its charter schools, SDP serves approximately 165,000 students, largely from high-poverty (76%) and minority (85%)…

The Library Company of Philadelphia: Historical Survey, Bibliography, Chronology.

ERIC Educational Resources Information Center

Sable, Martin H.

1987-01-01

Traces the history of the Library Company of Philadelphia, which was founded by Benjamin Franklin. Early book selection and scope of the collection, subsequent growth and development, and the various directors of the company are described. The bibliography includes publications of the Library Company and publications about the Library Company.…

Thromboembolism prophylaxis in patients with Philadelphia-negative myeloproliferative neoplasms-Clinical practice among Nordic specialists.

PubMed

Bjerrum, Ole Weis; Samuelsson, Jan; Ghanima, Waleed; Kauppila, Marjut; Andersen, Christen Lykkegaard

2018-05-01

Patients with Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs) have higher risks of developing thromboembolisms compared to the general population. International guidelines on the management of MPNs therefore include recommendations concerning thromboembolism prophylaxis. In clinical practice, strict adherence to guidelines may be challenging and dependent on factors such as physician experience, outpatient clinic setting, and access to therapy; however, no data exist on physician adherence or patient compliance to thromboembolism prophylaxis in MPNs. The Nordic Myeloproliferative Neoplasm Study Group (NMPN) performed a survey among Nordic hematology specialists with the aim of documenting the implementation of international recommendations in a region of Northern Europe with similar healthcare systems. The study showed that Nordic specialists managed their patients in accordance with international guidelines concerning medical intervention, but to a lesser degree regarding the management of additional cardiovascular risk factors. The survey also drew attention to the common clinical dilemma of combining antiaggregatory agents with vitamin K antagonists (VKA), or novel oral anticoagulants (NOAC), as well as phlebotomy limits in female polycythemia vera patients. The results of this study highlight the importance of considering all risk factors for thrombosis and an optimal collaboration with the primary healthcare sector. © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Delaware Valley Regional Planning Commission Philadelphia Metropolitan Region : planning for congestion

DOT National Transportation Integrated Search

2009-04-01

The Delaware Valley Regional Planning Commission uses a systematic process for managing traffic congestion and monitoring transportation system performance in the Philadelphia metropolitan region. Guided by an advisory team of stakeholders, the agenc...

Settlement to Improve Water Quality in Delaware River, Philadelphia-Area Creeks

EPA Pesticide Factsheets

EPA and the U.S. Department of Justice have reached agreement with a major water utility in the greater Philadelphia area to significantly reduce sewage discharges to the Delaware River and local creeks.

Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing Population

PubMed Central

Kırkızlar, Eser; Hall, Megan P.; Demko, Zachary; Zneimer, Susan M.; Curnow, Kirsten J.; Gross, Susan; Gropman, Andrea

2016-01-01

Background X&Y chromosomal aneuploidies are among the most common human whole-chromosomal copy number changes, but the population-based incidence and prevalence in the child-bearing population is unclear. Methods This retrospective analysis of prospectively collected data leveraged a routine non-invasive prenatal test (NIPT) using parental genotyping to estimate the population-based incidence of X&Y chromosome variations in this population referred for NIPT (generally due to advanced maternal age). Results From 141,916 women and 29,336 men, 119 X&Y chromosomal abnormalities (prevalence: 1 in 1,439) were identified. Maternal findings include: 43 cases of 45,X (40 mosaic); 30 cases of 47,XXX (12 mosaic); 3 cases of 46,XX uniparental disomy; 2 cases of 46,XY/46,XX; 23 cases of mosaicism of unknown type; 2 cases of 47,XX,i(X)(q10). Paternal findings include: 2 cases of 47,XXY (1 mosaic); 10 cases of 47,XYY (1 mosaic); 4 partial Y deletions. Conclusions Single chromosome aneuploidy was present in one of every 1,439 individuals considered in this study, showing 47,XXX; 47,XX,i(X)(q10); 47,XYY; 47,XXY, partial Y deletions, and a high level of mosaicism for 45,X. This expands significantly our understanding of X&Y chromosomal variations and fertility issues, and is critical for families and adults affected by these disorders. This current and extensive information on fertility will be beneficial for genetic counseling on prenatal diagnoses as well as for newly diagnosed postnatal cases. PMID:27512996

Relationships between chromosome structure and chromosomal aberrations

NASA Astrophysics Data System (ADS)

Eidelman, Yuri; Andreev, Sergey

An interphase nucleus of human lymphocyte was simulated by the novel Monte Carlo tech-nique. The main features of interphase chromosome structure and packaging were taken into account: different levels of chromatin organisation; nonrandom localisation of chromosomes within a nucleus; chromosome loci dynamics. All chromosomes in a nucleus were modelled as polymer globules. A dynamic pattern of intra/interchromosomal contacts was simulated. The detailed information about chromosomal contacts, such as distribution of intrachromoso-mal contacts over the length of each chromosome and dependence of contact probability on genomic separation between chromosome loci, were calculated and compared to the new exper-imental data obtained by the Hi-C technique. Types and frequencies of simple and complex radiation-induced chromosomal exchange aberrations (CA) induced by X-rays were predicted with taking formation and decay of chromosomal contacts into account. Distance dependence of exchange formation probability was calculated directly. mFISH data for human lymphocytes were analysed. The calculated frequencies of simple CA agreed with the experimental data. Complex CA were underestimated despite the dense packaging of chromosome territories within a nucleus. Possible influence of chromosome-nucleus structural organisation on the frequency and spectrum of radiation-induced chromosome aberrations is discussed.

[Control discourses and power relations of yellow fever: Philadelphia in 1793].

PubMed

Kim, Seohyung

2014-12-01

1793 Yellow fever in Philadelphia was the most severe epidemics in the late 18th century in the United States. More than 10% of the population in the city died and many people fled to other cities. The cause of yellow fever in the United States had close relationship with slaves and sugar in Philadelphia. Sugarcane plantation had needed many labors to produce sugar and lots of Africans had to move to America as slaves. In this process, Aëdes aegypti, the vector of yellow fever had migrated to America and the circumstances of ships or cities provided appropriate conditions for its breeding. In this period, the cause of yellow fever could not be established exactly, so suggestions of doctors became entangled in political and intellectual discourses in American society. There was a critical conflict between Jeffersonian Republicanism and Federalism about the origin and treatment of yellow fever. Benjamin Rush, a Jeffersonian Republican, suggested urban sanitation reform and bloodletting. He believed the infectious disease happened because of unsanitary city condition, so he thought the United States could be a healthy nation by improvement of the public health and sanitation. He would like to cope with national crisis and develop American society on the basis of republicanism. While Rush suggested the improvement of public health and sanitation, the city government of Philadelphia suggested isolation of yellow fever patients and quarantine. City government isolated the patients from healthy people and it reconstructed space of hospital. Also, it built orphanages to take care of children who lost their parents during the epidemic and implemented power to control people put in the state of exception. Of course, city government tried to protect the city and nation by quarantine of every ship to Philadelphia. Control policies of yellow fever in 1793 showed different conflicts and interactions. Through the yellow fever, Jeffersonian Republicanism and Federalism had

Frequency of JAK2 V617F mutation in patients with Philadelphia positive Chronic Myeloid Leukemia in Pakistan.

PubMed

Tabassum, Najia; Saboor, Mohammed; Ghani, Rubina; Moinuddin, Moinuddin

2014-01-01

Co-existence of myeloproliferative disorders (MPD) and Janus associated kinase 2 mutation (JAK2 V617F) is a well-established fact. Only few case reports are available showing presence of JAK2 V617F mutation in chronic myeloid leukemia (CML). Purpose of this study was to determine the frequency of JAK2 V617F mutation in Philadelphia Chromosome positive (Ph (+)) CML patients in Pakistan. The study was conducted from August 2009 to July 2010 at Civil Hospital and Baqai Institute of Hematology (BIH) Karachi. Blood samples from 25 patients with CML were collected. Multiplex reverse transcription polymerase chain reaction (RT-PCR) was performed for Breakpoint Cluster Region - Abelson (BCR-ABL) rearrangement. Conventional PCR was performed for JAK2 V617F mutation on BCR-ABL positive samples. All 25 samples showed BCR-ABL rearrangement. Out of these 11 samples (44%) had JAK2 V617F mutation; the remaining 14 (56%) cases showed JAK2 617V wild type. It is concluded that the co-existence of Ph (+)CML and JAK2 V617F mutation is possible.

Seasonal dependence of aerosol processing in urban Philadelphia

NASA Astrophysics Data System (ADS)

Avery, A. M.; Waring, M. S.; DeCarlo, P. F.

2017-12-01

Urban aerosols pose an important threat to human health due to the conflation of emissions and concentrated population exposed. Winter and summer aerosol and trace gas measurements were taken in downtown Philadelphia in 2016. Measurements included aerosol composition and size with an Aerodyne Aerosol Mass Spectrometer (AMS), particle size distributions with an SMPS, and an aethalometer. Trace gas measurements of O3, NO, CH4, CO, and CO2 were taken concurrently. Sampling in seasonal extremes provided contrast in aerosol and trace gas composition, aerosol processing, and emission factors. Inorganic aerosol components contributed approximately 60% of the submicron aerosol mass, while summertime aerosol composition was roughly 70% organic matter. Positive Matrix Factorization (PMF) on the organic aerosol (OA) matrix revealed three factors in common in each season, including an oxygenated organic aerosol (OOA) factor with different temporal behavior in each season. In summertime, OOA varied diurnally with ozone and daytime temperature, but in the wintertime, it was anti-correlated with ozone and temperature, and instead trended with calculated liquid water, indicating a seasonally-dependent processing of organic aerosol in Philadelphia's urban environment. Due to the inorganic dominant winter aerosol, liquid water much higher (2.65 μg/m3) in winter than in summer (1.54 μg/m3). Diurnally varying concentrations of background gas phase species (CH4, CO2) were higher in winter and varied less as a result of boundary layer conditions; ozone was also higher in background in winter than summer. Winter stagnation events with low windspeed showed large buildup of trace gases CH4, CO, CO2, and NO. Traffic related aerosol was also elevated with black carbon and hydrocarbon-like OA (HOA) plumes of each at 3-5 times higher than the winter the average value for each. Winter ratios of HOA to black carbon were significantly higher in the winter than the summer due to lower

Simulation of ground-water flow in the Potomac-Raritan-Magothy aquifer system near the Defense Supply Center Philadelphia, and the Point Breeze Refinery, southern Philadelphia County, Pennsylvania

USGS Publications Warehouse

Schreffler, Curtis L.

2001-01-01

Ground-water flow in the Potomac-Raritan- Magothy aquifer system (PRM) in south Philadelphia and adjacent southwestern New Jersey was simulated by use of a three-dimensional, seven-layer finite-difference numerical flow model. The simulation was run from 1900, which was prior to groundwater development, through 1995 with 21 stress periods. The focus of the modeling was on a smaller area of concern in south Philadelphia in the vicinity of the Defense Supply Center Philadelphia (DSCP) and the Point Breeze Refinery (PBR). In order to adequately simulate the ground-water flow system in the area of concern, a much larger area was modeled that included parts of New Jersey where significant ground-water withdrawals, which affect water levels in southern Philadelphia, had occurred in the past. At issue in the area of concern is a hydrocarbon plume of unknown origin and time of release.The ground-water-flow system was simulated to estimate past water-level altitudes in and near the area of concern and to determine the effect of the Packer Avenue sewer, which lies south of the DSCP, on the ground-water-flow system. Simulated water-level altitudes for the lower sand unit of the PRM on the DSCP prior to 1945 ranged from pre-development, unstressed altitudes to 3 feet below sea level. Simulated water-level altitudes for the lower sand unit ranged from 3 to 7 feet below sea level from 1946 to 1954, from 6 to 10 feet below sea level from 1955 to 1968, and from 9 to 11 feet below sea level from 1969 to 1978. The lowest simulated water-level altitude on the DSCP was 10.69 feet below sea level near the end of 1974. Model simulations indicate ground water was infiltrating the Packer Avenue sewer prior to approximately 1947 or 1948. Subsequent to that time, simulated ground-water-level altitudes were lower than the bottom of the sewer.

What Story Does the Work Tell? A Resource of Curricular Units, Student Work and Commentary by Philadelphia Teachers.

ERIC Educational Resources Information Center

Cantrill, Christina, Comp.; Glass, Don, Comp.; Sparks, Andrew, Comp.

This document is a tool to help teachers look at student work as a means to assess individual student progress. It contains work samples, accompanying commentaries, and assessment tools which originate from students and teachers in Philadelphia public schools who participated in the Philadelphia Education Fund's Small Learning Community…

Short-Form Philadelphia Naming Test: Rationale and Empirical Evaluation

ERIC Educational Resources Information Center

Walker, Grant M.; Schwartz, Myrna F.

2012-01-01

Purpose: To create two matched short forms of the Philadelphia Naming Test (PNT; Roach, Schwartz, Martin, Grewal, & Brecher, 1996) that yield similar results to the PNT for measuring anomia. Method: In Study 1, archived naming data from 94 individuals with aphasia were used to identify which PNT items should be included in the short forms. The 2…

Allogeneic hematopoietic cell transplantation (allogeneic HCT) for treatment of pediatric Philadelphia chromosome-positive acute lymphoblastic leukemia (ALL).

PubMed

Burke, Michael J; Cao, Qing; Trotz, Barb; Weigel, Brenda; Kumar, Ashish; Smith, Angela; Verneris, Michael R

2009-12-15

Allogeneic hematopoietic cell transplant (HCT) with best available donor for children with Philadelphia positive (Ph+) acute lymphoblastic leukemia (ALL) has previously been considered standard practice. Since the introduction of imatinib into the treatment of this disease, the role of allogeneic HCT is more uncertain. We investigated the impact of remission status, graft source, and imatinib use on transplant outcomes for 37 children with Ph+ ALL who received an allogeneic HCT at the University of Minnesota between 1990 and 2006. The median age at HCT was 7.47 (range; 1.4-16.4) years. Thirteen patients received imatinib therapy pre- and/or post-HCT (imatinib group) and 24 patients, received either no imatinib (n = 23) or only post-HCT relapse (n = 1) (non-imatinib group). There was no difference in disease-free survival (DFS) or relapse between the imatinib and non-imatinib groups at 3 years (62%/15% vs. 53%/26%; P = 0.99; 0.81, respectively). There was no significant difference in transplant outcomes between matched related donor or unrelated donor (umbilical cord blood or matched unrelated marrow) recipients whereas patients receiving allogeneic HCT in first remission (CR1) had superior DFS and less relapse compared to patients transplanted in >or=CR2 (71%/16% vs. 29%/36%; P = 0.01; P = 0.05). Based on this retrospective analysis at a single institution, the use of imatinib either pre- and/or post-transplant does not appear to significantly impact outcomes for children with Ph+ ALL and allogeneic HCT with the best available donor should be encouraged in CR1.

Tetraploidy acute myeloid leukaemia after chromosome 16 inversion.

PubMed

Vilches, Alba Sara; Díaz de Bustamante, Aranzazu; Sanchez-Calero, Jorge; Darnaude, María Teresa

2017-03-22

Our patient is a 36-year-old man referred by his general physician to the Department of Hematology because of mild neutropenia in a routine analysis at work. There was no history of previous diseases, and examination was normal. Blood investigations confirmed the neutropenia and showed elongation of prothrombin time. A bone marrow examination was performed revealing about 10% of myeloblasts on the aspirate smears. A cytogenetic study showed chromosome 16 inversion in all of these cells and tetraploidy only in some of them, which were extremely large in size. According to the revised WHO classification of tumours (2008), the patient was diagnosed as a case of acute myeloid leukaemia with chromosome 16 inversion. 2017 BMJ Publishing Group Ltd.

The Philadelphia epidemic of Legionnaire's disease: clinical, pulmonary, and serologic findings two years later.

PubMed

Lattimer, G L; Rhodes, L V; Salventi, J S; Galgon, J P; Stonebraker, V; Boley, S; Haas, G

1979-04-01

Clinical, pulmonary, and serologic findings in Legionnaires who attended the 1976 American Legion Convention in Philadelphia were studied 2 years after the Legionnaires' disease epidemic there. All 31 survivors of Legionnaires' disease studied became ill within 2 weeks after the convention, and 18 had not fully recovered 2 years after the epidemic. Twenty-five (28%) of 90 additional Legionnaires exposed at the convention but not diagnosed as having Legionnaires' disease became ill during the same time interval; five of these had symptoms during the next 2 years. Survivors had decreased diffusion capacities measured by the carbon monoxide single-breath method. These differences could not be accounted for by ventilation abnormalities or concurrent illness. Significant levels of IgG or IgM antibodies persisted in 94% of survivors of Legionnaires' disease and in 53% of Legionnaires exposed at the convention, which suggests a high prevalence of subclinical infection. Persistence of IgM antibody raises the question of latency or subclinical infection as part of the natural history of Legionnaires' disease.

Pediatric radiology in the Philadelphia region: a history of pedigrees and legacies.

PubMed

Markowitz, Richard I

2009-09-01

The specialty of pediatric radiology in the Philadelphia region has grown and evolved over the past eight decades originating from early "visiting" radiologists to Drs. Hope and Kirkpatrick, the "giants" of the 1950s and 1960s, to over 40 actively practicing pediatric radiologists. Clinical excellence, commitment to teaching, and advancement of knowledge through research remain the goals and ideals, much as they were many years ago. Philadelphia has been a fertile home and environment for this development, mostly because of outstanding leaders and role models who have trained and influenced generations of pediatric radiologists. The purpose of this article is to tell the story of this growth and development and to explore the intellectual origins, professional "genealogy," and legacies left by those who created this tradition.

Faith Partnerships and Public Schools in Philadelphia: Rewards and Perils.

ERIC Educational Resources Information Center

Mundell, Leah

In 1999, Philadelphia (Pennsylvania) school superintendent David Hornbeck introduced educators and religious leaders to his requirement that each public school in the city develop a relationship with a faith partner, a religious institution that could share facilities and resources with the school. Hornbeck saw religious institutions and schools…

Identity Performance and Collectivist Leadership in the Philadelphia Student Union

ERIC Educational Resources Information Center

Rosen, Sonia M.

2016-01-01

Youth organizing work benefits young people in myriad ways, equipping them with the skills and dispositions to organize around the systemic inequities and policy decisions that threaten their communities. The findings from this life histories study in the Philadelphia Student Union (PSU) reveal that the organization's collectivist leadership model…

"He Says You're Going To Play the Giant": Ethnographic Perspectives on a Cambodian Arts Class in Philadelphia. Philadelphia Folklore Project Working Papers #8.

ERIC Educational Resources Information Center

Westerman, William

This project began when the Philadelphia Folklore Project (PFP) initiated a residency partnership with the Samuel S. Fleisher Art Memorial in traditional Cambodian arts. The PFP anticipated raising issues that might help in the understanding of the cultural dynamics and elements that were likely to shape and effect the residency. The PFP imagined…

Evaluation of Inflammation Parameters in Philadelphia Negative Chronic Myeloproliferative Neoplasia Patients.

PubMed

Hacibekiroglu, Tuba; Akinci, Sema; Basturk, Abdulkadir; inal, Besime; Guney, Tekin; Bakanay, Sule Mine; Dilek, Imdat

2015-01-01

Chronic myeloproliferative diseases are clonal stem cell diseases which occur as a result of uncontrollable growth and reproduction of hematopoietic stem cells, which are the myeloid series source in bone marrow. Recent studies have suggested that chronic inflammation can be a triggering factor in the clonal change in chronic myeloproliferative neoplasia (CMPN). In our study, we evaluated the existence of a chronic inflammation process in our Philadelphia negative (Ph-)CMPN patients using inflammation parameters in combination with demographic, laboratory and clinical characteristics of the patients. Demographic characteristics, clinical and laboratorial data, and thrombosis histories of 99 Ph-CMPN patients, who were diagnosed at our outpatient clinic of hematology in accordance with WHO 2008 criteria, were analyzed retrospectively,with 80 healthy individuals of matching gender and age included as controls. Complete blood counts, sedimentation, C reactive protein (CRP), JAK V617F gene mutations, abdomen ultrasound images and previous thrombosis histories of these patients were retrospectively analyzed. Ph-CMPN and healthy control groups included 99 and 80 cases, respectively. PV, ET and MF diagnoses of patients were 43 (%43.4), 44 (44.4%) and 12 (12.1%), respectively. JAK V617F gene mutation was found to be positive in 64 (71.1%) of all cases and in 27(65.8%), 32 (82%), 5 (50%) of the cases in PV, ET and PMF groups, respectively. Thrombosis was determined as 12 (12%) in the entire group, 12.5% in the JAK V617F negative and 15.3% in the positive patients, with no statistical significance (p=0.758). No significant difference was observed between patients with and without previous thrombosis history in respect to hemogram parameters, sedimentation and CRP (p>0.05), neutrophil to lymphocyte ratio (NLR), erythrocyte distribution width (RDW), mean platelet volume (MPV) and sedimentation levels of the patient.

The Implementation of CRM at FISC Norfolk Detachment Philadelphia

DTIC Science & Technology

2003-06-01

Customer Relationship Management system. [28] If FISC decides to implement a CRM system, the decision will impact the duties of the...distribution is unlimited 12b. DISTRIBUTION CODE 13. ABSTRACT (maximum 200 words) Customer Relations Management ( CRM ) can be defined in many ways. In...Norfolk Philadelphia Mission Statement. 15. NUMBER OF PAGES 91 14. SUBJECT TERMS Customer Relations Management System, CRM ,

Heat-related deaths in Philadelphia--1993.

PubMed

Mirchandani, H G; McDonald, G; Hood, I C; Fonseca, C

1996-06-01

A study of heat-related deaths associated with the 1993 heat wave in Philadelphia, Pennsylvania, was conducted. Most of these deaths were in the susceptible elderly with preexisting natural diseases who lived alone without air conditioning in upstairs bedrooms with windows shut, thus creating an even hotter environment. These excessive deaths under such conditions did not meet the standard clinical criteria for hyperthermia because of varying postmortem intervals. Therefore, the authors stress the utility of a postmortem definition of heat-related death to better define the magnitude of health risk posed by hot weather and warn public health and other agencies to take preventative measures.

Proposed Capital Program 1970-1975, the School District of Philadelphia.

ERIC Educational Resources Information Center

Philadelphia School District, PA.

This report presents the School District of Philadelphia's long-range plan for school facilities and, based upon it, a capital program for the fiscal years 1970 through 1975. Present conditions are reviewed, citing the "facility gap" and indicating future needs. The plan for school facilities is presented specifying--(1) the educational basis of…

GATEWAY Report Brief: SSL Evaluation: Philadelphia International Airport Apron Lighting

DOE Office of Scientific and Technical Information (OSTI.GOV)

None, None

Summary of report that documents a trial installation of LED apron lighting that replaced the existing high-pressure sodium luminaires at Philadelphia International Airport. Such high-mast applications remain challenging for LED technology, and the lessons learned from this project may help facility managers and LED product manufacturers better meet those challenges.

Alterations and Chromosomal Variants in the Ecuadorian Population

PubMed Central

Paz-y-Miño, César; Cumbal, Nadia; Araujo, Santiago; Sánchez, Ma. Eugenia

2012-01-01

Medical genetics is a field marked by fast progress. Even though it was at one point confined to a group of relatively rare diseases, today it has become a central component in the understanding of disorders and it is the subject of interest for all medical specialties. This paper, shares data on the chromosomal alterations and variations that have been diagnosed in Ecuadorian patients since 1998. A total of 2,636 individual cases have been analyzed by G-banding technique until February 2012. The present work shows this collection of data and the important findings that have appeared throughout these years in hopes that it can contribute to have a deeper understanding of the incidence of chromosomal aberrations and alterations in the Ecuadorian population. PMID:23091347

School-to-Career and Post-Secondary Education: Evidence from the Philadelphia Educational Longitudinal Study. NBER Working Paper No. 11260

ERIC Educational Resources Information Center

Furstenberg, Frank F., Jr.; Neumark, David

2005-01-01

We study a set of programs implemented in Philadelphia high schools that focus on boosting post-secondary enrollment. These programs are less career oriented than traditional school-to work programs, but are consistent with the broadening of the goals of school-to-work to emphasize post-secondary education. The Philadelphia Longitudinal…

Chromosome

MedlinePlus

... St Louis, MO: Elsevier; 2017:chap 69. Taber's Medical Dictionary Online. Chromosome. www.tabers.com/tabersonline/view/Tabers-Dictionary/753321/all/chromosome?q=Chromosome&ti=0 . Accessed June 11, 2017.

Drug Information Requests at the Philadelphia College of Pharmacy and Science.

ERIC Educational Resources Information Center

Snow, Bonnie

1979-01-01

Analysis of requests received at the Pharmaceutical Information Center of the Philadelphia College of Pharmacy and Science contributes to: (1) the task of educational planning for health-science professionals, (2) identification of pharmaceutical literature retrieval skills needed, and (3) identification of sources which contain information…

Transition to High School: School "Choice" & Freshman Year in Philadelphia

ERIC Educational Resources Information Center

Gold, Eva; Evans, Shani Adia; Haxton, Clarisse; Maluk, Holly; Mitchell, Cecily; Simon, Elaine; Good, Deborah

2010-01-01

The School District of Philadelphia's tiered system of selective, nonselective, and charter high schools, and the process for high school choice, has created real variation in the degree to which high schools can successfully meet the needs of ninth graders. Research has shown that the ninth grade year is critical in determining a student's…

Determinants of parental decisions to abort for chromosome abnormalities.

PubMed

Drugan, A; Greb, A; Johnson, M P; Krivchenia, E L; Uhlmann, W R; Moghissi, K S; Evans, M I

1990-08-01

Parental decisions concerning the continuation of pregnancy following prenatal detection of abnormal chromosomes were evaluated for 80 patients whose diagnosis and prenatal counselling were performed in our centre. Twenty-two anomalies were diagnosed by chorionic villus sampling (CVS) and 58 by amniocentesis. The severity of the chromosome anomaly and associated ultrasound findings in the first vs. second trimester were correlated with patients' decisions. No difference was found in the likelihood of parental decisions to interrupt or continue a pregnancy between CVS and amniocentesis for either the 'severe' or the 'questionable' group of chromosome anomalies. Ninety-three per cent of patients with severe prognosis and 27 per cent with questionable prognosis opted for pregnancy termination (p less than 0.0001). The association of ultrasound anomalies and termination was highly significant (p less than 0.001). The severity of the chromosome anomaly, and, to a lesser extent, the visualization of anomalies on ultrasound were the major determinants of parental decisions to terminate the pregnancy. The diagnosis of an anomaly in the first trimester was no more likely ito lead to a termination of pregnancy than in the second trimester.

Structural and Functional Characterization of a New Double Variant Haemoglobin (HbG-Philadelphia/Duarte α(2)β(2)).

PubMed

Fais, Antonella; Casu, Mariano; Ruggerone, Paolo; Ceccarelli, Matteo; Porcu, Simona; Era, Benedetta; Anedda, Roberto; Sollaino, Maria Carla; Galanello, Renzo; Corda, Marcella

2011-01-01

WE REPORT THE FIRST CASE OF COSEGREGATION OF TWO HAEMOGLOBINS (HBS): HbG-Philadelphia [α68(E17)Asn → Lys] and HbDuarte [β62(E6)Ala → Pro]. The proband is a young patient heterozygous also for β°-thalassaemia. We detected exclusively two haemoglobin variants: HbDuarte and HbG-Philadelphia/Duarte. Functional study of the new double variant HbG-Philadelphia/Duarte exhibited an increase in oxygen affinity, with a slight decrease of cooperativity and Bohr effect. This functional behaviour is attributed to β62Ala → Pro instead of α68Asn → Lys substitution. Indeed, HbG-Philadelphia isolated in our laboratory from blood cells donor carrier for this variant is not affected by any functional modification, whereas purified Hb Duarte showed functional properties very similar to the double variant. NMR and MD simulation studies confirmed that the presence of Pro instead of Ala at the β62 position produces displacement of the E helix and modifications of the tertiary structure. The substitution α68(E17)Asn → Lys does not cause significant structural and dynamical modifications of the protein. A possible structure-based rational of substitution effects is suggested.

The Role of District Leadership in Radical Reform: Philadelphia's Experience under the State Takeover, 2001-2006. An Occasional Paper

ERIC Educational Resources Information Center

Useem, Elizabeth; Christman, Jolley Bruce; Boyd, William Lowe

2006-01-01

Leadership is key in the success of any reform, especially one as ambitious and complex as that in Philadelphia. "The case of Philadelphia is noteworthy as an exemplar of the implementation of paradigm-breaking new reforms in the governance and delivery of urban education." This report follows the first five years of the state takeover…

Big City Superintendent as Powerful CEO: Paul Vallas in Philadelphia

ERIC Educational Resources Information Center

Useem, Elizabeth

2009-01-01

This case study of the leadership of Paul Vallas as CEO of the Philadelphia city schools from 2002-2007 demonstrates that No Child Left Behind has enhanced the formal authority of big city district chiefs even though they are constrained by its accountability mandates and by the pressures from a growing number of influential stakeholder groups. In…

RotaTeq (sanofi pasteur/Wistar Institute/Children's Hospital of Philadelphia).

PubMed

Desselberger, Ulrich

2005-02-01

Sanofi pasteur MSD (a joint venture between Merck & Co and sanofi pasteur (formerly Aventis Pasteur)), in collaboration with the Wistar Institute and the Children's Hospital of Philadelphia, is developing RotaTeq, an oral liquid pentavalent vaccine for the potential prevention of rotavirus infection-related disorders, such as infant diarrhea and malabsorption. Phase III trials had commenced by March 2001.

Frequency of JAK2 V617F mutation in patients with Philadelphia positive Chronic Myeloid Leukemia in Pakistan

PubMed Central

Tabassum, Najia; Saboor, Mohammed; Ghani, Rubina; Moinuddin, Moinuddin

2014-01-01

Background and Objective: Co-existence of myeloproliferative disorders (MPD) and Janus associated kinase 2 mutation (JAK2 V617F) is a well-established fact. Only few case reports are available showing presence of JAK2 V617F mutation in chronic myeloid leukemia (CML). Purpose of this study was to determine the frequency of JAK2 V617F mutation in Philadelphia Chromosome positive (Ph +) CML patients in Pakistan. Methods: The study was conducted from August 2009 to July 2010 at Civil Hospital and Baqai Institute of Hematology (BIH) Karachi. Blood samples from 25 patients with CML were collected. Multiplex reverse transcription polymerase chain reaction (RT-PCR) was performed for Breakpoint Cluster Region – Abelson (BCR-ABL) rearrangement. Conventional PCR was performed for JAK2 V617F mutation on BCR-ABL positive samples. Results: All 25 samples showed BCR-ABL rearrangement. Out of these 11 samples (44%) had JAK2 V617F mutation; the remaining 14 (56%) cases showed JAK2 617V wild type. Conclusion: It is concluded that the co-existence of Ph +CML and JAK2 V617F mutation is possible. PMID:24639858

Un-Leaded Only: Toward a Safer City for Children. A 2002 Report on Childhood Lead Paint Poisoning in Philadelphia.

ERIC Educational Resources Information Center

McCauley, Colleen; Yanoff, Shelly D.; Fynes, Steven E.

As part of its work in improving the lives and life changes of children in the Philadelphia region, the Philadelphia Citizens for Children and Youth examined the problem of local childhood lead paint poisoning. This report describes their efforts, beginning with a description of the impact of lead poisoning on children's health and a discussion of…

Hydrologic data for aquifers in Philadelphia, Pennsylvania

USGS Publications Warehouse

Paulachok, G.N.; Wood, C.R.; Norton, L.J.

1984-01-01

Selected data on the ground-water resources of Philadelphia, Pennsylvania, are presented in this report. Information including water levels and data on aquifers is tabulated for 828 wells and 3 sumps. Chemical analyses are given for 1,467 water samples obtained from 205 sites and include 103 analyses for trace elements and 68 analyses for volatile organic compounds. An index of geophysical logs including gamma ray, neutron, caliper, fluid conductivity, fluid velocity, single-point resistance, spontaneous potential, and temperature determinations made in 51 wells is also presented. Data-collection sites are shown on a 1:50,000 scale location map.

Evaluation of Group Genetic Ancestry of Populations from Philadelphia and Dakar in the Context of Sex-Biased Admixture in the Americas

PubMed Central

Stefflova, Klara; Dulik, Matthew C.; Pai, Athma A.; Walker, Amy H.; Zeigler-Johnson, Charnita M.; Gueye, Serigne M.; Schurr, Theodore G.; Rebbeck, Timothy R.

2009-01-01

Background Population history can be reflected in group genetic ancestry, where genomic variation captured by the mitochondrial DNA (mtDNA) and non-recombining portion of the Y chromosome (NRY) can separate female- and male-specific admixture processes. Genetic ancestry may influence genetic association studies due to differences in individual admixture within recently admixed populations like African Americans. Principal Findings We evaluated the genetic ancestry of Senegalese as well as European Americans and African Americans from Philadelphia. Senegalese mtDNA consisted of ∼12% U haplotypes (U6 and U5b1b haplotypes, common in North Africa) while the NRY haplotypes belonged solely to haplogroup E. In Philadelphia, we observed varying degrees of admixture. While African Americans have 9–10% mtDNAs and ∼31% NRYs of European origin, these results are not mirrored in the mtDNA/NRY pools of European Americans: they have less than 7% mtDNAs and less than 2% NRYs from non-European sources. Additionally, there is <2% Native American contribution to Philadelphian African American ancestry and the admixture from combined mtDNA/NRY estimates is consistent with the admixture derived from autosomal genetic data. To further dissect these estimates, we have analyzed our samples in the context of different demographic groups in the Americas. Conclusions We found that sex-biased admixture in African-derived populations is present throughout the Americas, with continual influence of European males, while Native American females contribute mainly to populations of the Caribbean and South America. The high non-European female contribution to the pool of European-derived populations is consistently characteristic of Iberian colonization. These data suggest that genomic data correlate well with historical records of colonization in the Americas. PMID:19946364

Sowing City Schools: Teachers and Garden Education in Havana and Philadelphia

ERIC Educational Resources Information Center

Bucher, Katie Ann

2012-01-01

This dissertation examines how pedagogies of sustainability are embedded in socio-cultural contexts and policy structures and driven by the localized actions of teachers. Through a comparative case study in two cities with extensive and varied school garden programs, Havana and Philadelphia, this dissertation analyzes the roles, understandings,…

[Clinical and Laboratorial Characteristics of Primary Acute Myeloid leukemia with Philadelphia Chromosome and Inversion 16].

PubMed

Jiang, Feng; Wang, Yuan-Yuan; Cheng, Zi-Xing; Chen, Su-Ning; Liu, Dan-Dan; Liang, Jian-Ying; Pan, Jin-Lan; Zhu, Ming-Qing; Ding, Wen-Jing; Cen, Jian-Nong

2015-04-01

To summarize the clinical characteristics as well as diagnosis and treatment in 1 case of acute myeloid leukemia(AML) with coexpression of Ph and inv(16). A series of clinical tests, the cellular morphological, immunological, cytogenetic and molecular biological examinations of leukemia cells were performed. The clinical characteristics of this patient were very common. The cellular morphology is similar to the AML with inv(16). The leukemia cells were stained positively for CD13, CD33, CD34, CD117 and HLA-DR. Karyotypic analysis showed a complex chromosome abnormality including inv(16) and Ph, and the FISH analysis showed that the percentage of rearrangement of CBFβ allele was over that of the BCR-ABL fusion signals. The obvious adverse events did not occur in this patient within 3 years. Ph as secondary aberration of inv(16) rarely occures in primary AML cases, and so far there have not been the clear criteria of diagnosis and treatment. The cytogenetic and molecular biology could provide the basis for diagnosis. Moreover, autologous hematopoietic stem cell transplantation combined with imatinib probably is one of the effective treatment methods.

Spatial analysis of volatile organic compounds in South Philadelphia using passive samplers

EPA Science Inventory

Select volatile organic compounds (VOCs) were measured in the vicinity of a petroleum refinery and related operations in South Philadelphia, Pennsylvania, USA, using passive air sampling and laboratory analysis methods. Two-week, time-integrated samplers were deployed at 17 sites...

Risk of Gonadoblastoma Development in Patients with Turner Syndrome with Cryptic Y Chromosome Material.

PubMed

Kwon, Ahreum; Hyun, Sei Eun; Jung, Mo Kyung; Chae, Hyun Wook; Lee, Woo Jung; Kim, Tae Hyuk; Kim, Duk Hee; Kim, Ho-Seong

2017-06-01

Current guidelines recommend that testing for Y chromosome material should be performed only in patients with Turner syndrome harboring a marker chromosome and exhibiting virilization in order to detect individuals who are at high risk of gonadoblastoma. However, cryptic Y chromosome material is suggested to be a risk factor for gonadoblastoma in patients with Turner syndrome. Here, we aimed to estimate the frequency of cryptic Y chromosome material in patients with Turner syndrome and determine whether Y chromosome material increased the risk for development of gonadoblastoma. A total of 124 patients who were diagnosed with Turner syndrome by conventional cytogenetic techniques underwent additional molecular analysis to detect cryptic Y chromosome material. In addition, patients with Turner syndrome harboring Y chromosome cell lines had their ovaries removed prophylactically. Finally, we assessed the occurrence of gonadoblastoma in patients with Turner syndrome. Molecular analysis demonstrated that 10 patients had Y chromosome material among 118 patients without overt Y chromosome (8.5%). Six patients with overt Y chromosome and four patients with cryptic Y chromosome material underwent oophorectomy. Histopathological analysis revealed that the occurrence of gonadoblastoma in the total group was 2.4%, and gonadoblastoma occurred in one of six patients with an overt Y chromosome (16.7%) and 2 of 10 patients with cryptic Y chromosome material (20.0%). The risk of developing gonadoblastoma in patients with cryptic Y chromosome material was similar to that in patients with overt Y chromosome. Therefore, molecular screening for Y chromosome material should be recommended for all patients with Turner syndrome to detect individuals at a high risk of gonadoblastoma and to facilitate proper management of the disease.

The effect of Philadelphia and Pennsylvania Clean Indoor Air Act on food services and drinking places sales and numbers, 1998-2011.

PubMed

Ma, Zhen-Qiang; Fisher, Monica A

2013-11-27

Philadelphia enacted its Clean Indoor Air Act (CIAA) nearly 2 years before the statewide CIAA. In this study, we assessed the economic impact of CIAAs on 4 types of food services and drinking places and addressed the predominant limitation of previous pre-post ban studies, namely the lack of control for confounders and changes in secular trends over time. We analyzed data from Pennsylvania Department of Revenue Quarterly 1998-2011 taxable county-level revenue sales and number of food services and drinking places. Region-specific and type-specific adjusted sales and number of food services and drinking places accounted for consumer spending as a general economic indicator. Segmented regression analysis of interrupted time-series methodology assessed changes in trend and level. Pennsylvania CIAA had no significant effect on adjusted sales or numbers except for an increase in sales in Philadelphia for limited-service eating places and in the surrounding 4 counties for special food services. Philadelphia CIAA was associated with an increase in adjusted numbers of full-service restaurants in Philadelphia and the rest of the state, special food services in Philadelphia, and drinking places in the rest of the state, and a decrease in the number of special food services in the surrounding counties. Philadelphia CIAA had no significant effect on adjusted sales except for an increase in special food services in the rest of the state. Overall, CIAAs had no negative business-related impact and, for the most part, suggest a positive impact on restaurant sales and numbers. Our results provide further support for comprehensive CIAA ordinance for restaurants.

Whole-House Solutions for Existing Homes: Philadelphia Housing Authority Energy-Efficiency Turnover Protocols

DOE Office of Scientific and Technical Information (OSTI.GOV)

None

2016-02-24

The Philadelphia Housing Authority worked with the U.S. Department of Energy’s Building America Program to integrate energy-efficiency measures into the refurbishment process that each unit normally goes through between occupancies.

The co-occurrence of driver mutations in chronic myeloproliferative neoplasms.

PubMed

Boddu, Prajwal; Chihara, Dai; Masarova, Lucia; Pemmaraju, Naveen; Patel, Keyur P; Verstovsek, Srdan

2018-06-27

Myeloproliferative neoplasms (MPNs) are clonal disorders characterized by proliferation of one or more elements of the myeloid lineage. Key genetic aberrations include the BCR-ABL1 gene rearrangement in Philadelphia chromosome-positive chronic myelogenous leukemia (CML) and JAK2/MPL/CALR aberrations in Philadelphia chromosome-negative MPNs. While thought to be mutually exclusive, occasional isolated reports of coexistence of BCR-ABL1 and JAK2, and JAK2 with MPL or CALR aberrations have been described. Given the paucity of data, clinical characteristics and outcome of patients harboring concurrent Philadelphia-positive and Philadelphia-negative mutations or dual Philadelphia-negative driver mutations have not been systematically evaluated, and their clinical relevance is largely unknown. It is difficult to determine the true relevance of co-existing driver mutations on outcomes given the rarity of its occurrence. In this case series, we describe those patients who had dual driver mutations detected at any point during the course of their disease and characterized their clinical and laboratory features, bone marrow pathology, and overall disease course.

Seizing Opportunities: Genie Tyburski--Ballard Spahr Andrews & Ingersoll, LLP, Philadelphia

ERIC Educational Resources Information Center

Library Journal, 2004

2004-01-01

Genie Tyburski did not set out to be a law librarian. When asked at Drexel's library school what kind of librarian she wanted to be, she was surprised that "a good one" was not one of the options. But six weeks into the semester, she landed a part-time cataloging job at Community Legal Services in Philadelphia; six months later she was…

Current challenges and opportunities in treating adult patients with Philadelphia-negative acute lymphoblastic leukaemia.

PubMed

Wolach, Ofir; Amitai, Irina; DeAngelo, Daniel J

2017-12-01

Significant advances have been made in recent years in the field of Philadelphia-negative acute lymphoblastic leukaemia (ALL). New insights into the biology and genetics of ALL as well as novel clinical observations and new drugs are changing the way we diagnose, risk-stratify and treat adult patients with ALL. New genetic subtypes and alterations refine risk stratification and uncover new actionable therapeutic targets. The incorporation of more intensive, paediatric and paediatric-inspired approaches for young adults seem to have a positive impact on survival in this population. Minimal residual disease at different time points can assist in tailoring risk-adapted interventions for patients based on individual response. Finally, novel targeted approaches with monoclonal antibodies, immunotherapies and small molecules are moving through clinical development and entering the clinic. The aim of this review is to consolidate the abundance of emerging data and to review and revisit the concepts of risk-stratification, choice of induction and post-remission strategies as well as to discuss and update the approach to specific populations with ALL, such as young adult, elderly/unfit and relapsed/refractory patients with ALL. © 2017 John Wiley & Sons Ltd.

The introduction of deaconess nurses at the German hospital of the city of Philadelphia in the 1880s.

PubMed

Schweikardt, Christoph

2010-01-01

In 1884, seven deaconesses from Iserlohn, Germany, came to the Philadelphia German Hospital to take over nursing care and hospital administration. This article deals with the preparation and implementation of deaconess rule at the German Hospital and conflicts during the tenure of the first two Sisters Superior, Marie Krueger (1826-1887) and Wanda von Oertzen (1845-1897). Recruitment of the deaconesses took place within a network of relations between German and American motherhouses. Before their arrival in Philadelphia, the benefactor of the German Hospital, John D. Lankenau (1817-1901), had committed himself to hospital rule by the Sister Superior. A Deaconess Committee was created to deal with the opposition of the Medical Board. Introducing deaconesses to the Philadelphia German Hospital led to a major change of medical personnel and allowed the hospital to develop a new corporate identity.

How complete are immunization registries? The Philadelphia story.

PubMed

Kolasa, Maureen S; Chilkatowsky, Andrew P; Clarke, Kevin R; Lutz, James P

2006-01-01

To assess accuracy and completeness of Philadelphia, Pa, registry data among children served by providers in areas at risk for underimmunization. Philadelphia's Department of Public Health selected a simple random sample of 45 children age 19-35 months (or all children age 19-35 months if there were <45 children in the practice) from each of 30 private practices receiving government-funded vaccine and located in zip codes where children are at risk for underimmunization. Chart and registry data were compared with determine the proportion of children missing from the registry and assess differences in immunization coverage. Of 620 children reviewed, 567 (92%) were in the registry. Significant differences (P < .05) were observed in immunization coverage for 4 diphtheria-tetanus-acellular pertussis vaccinations, 3 polio vaccinations, 1 measles-mumps-rubella vaccination, and 3 Haemophilus influenzae type b vaccinations between the chart (80% coverage) and registry (62% coverage). Providers submitting electronic medical records or directly transferring electronic data to the registry had significantly more children in the registry and higher registry-reported immunization coverage than those whose data were entered from billing records or log forms. All practice types experienced difficulties in transferring complete data to the registry. Although 92% of study children were in the registry, immunization coverage was significantly lower when registry data were compared with chart data. Because electronic medical records and direct electronic data transfer resulted in more complete registry data, these methods should be encouraged in linking providers with immunization registries.

Elements of Success: WorkReady Philadelphia Program Year 2011-2012 Report

ERIC Educational Resources Information Center

Philadelphia Youth Network, 2012

2012-01-01

What does it take to deliver WorkReady Philadelphia's high-quality career-connected programming? In short, it's all about the "elements"--those essential components of the system that combine to produce success for young people. This 2011-12 WorkReady report reinforces this theme by using visual aspects of the "Periodic Table of…

Racial Disparities In Geographic Access To Primary Care In Philadelphia.

PubMed

Brown, Elizabeth J; Polsky, Daniel; Barbu, Corentin M; Seymour, Jane W; Grande, David

2016-08-01

Primary care is often thought of as the gateway to improved health outcomes and can lead to more efficient use of health care resources. Because of primary care's cardinal importance, adequate access is an important health policy priority. In densely populated urban areas, spatial access to primary care providers across neighborhoods is poorly understood. We examined spatial variation in primary care access in Philadelphia, Pennsylvania. We calculated ratios of adults per primary care provider for each census tract and included buffer zones based on prespecified drive times around each tract. We found that the average ratio was 1,073; the supply of primary care providers varied widely across census tracts, ranging from 105 to 10,321. We identified six areas of Philadelphia that have much lower spatial accessibility to primary care relative to the rest of the city. After adjustment for sociodemographic and insurance characteristics, the odds of being in a low-access area were twenty-eight times greater for census tracts with a high proportion of African Americans than in tracts with a low proportion of African Americans. Project HOPE—The People-to-People Health Foundation, Inc.

Prenatally diagnosed fetal lung lesions with associated conotruncal heart defects: is there a genetic association?

PubMed

Hüsler, Margaret R; Wilson, R Douglas; Rychik, Jack; Bebbington, Michael W; Johnson, Mark P; Mann, Stephanie E; Hedrick, Holly L; Adzick, Scott

2007-12-01

Congenital lung malformation can easily be diagnosed by prenatal ultrasound. Associated extrapulmonary malformations such as heart defects and chromosomal aberrations are rare. The objective of this study was to describe the natural history, outcome and other associated malformations in fetuses with lung lesions and an associated heart defect. Retrospective analysis of 4 cases of prenatally diagnosed fetal CCAMs and hybrid lesions with an associated heart defect and review of 8 cases in the literature. At a single referral center 1.9% of the fetuses with Congenital cystic adenomatoid malformation (CCAM) were diagnosed with an associated heart defect. Seven of the total 12 cases (58%) reviewed had a conotruncal heart abnormality. Chromosomal abnormalities were found in 5 (42%) of the cases. This retrospective review shows that karyotyping in fetal lung lesions with an associated heart defect or isolated large lung lesions is indicated. It also suggests that there is a subpopulation of fetuses with CCAMs who have conotruncal heart defects. This finding may suggest a common genetic background. Copyright (c) 2007 John Wiley & Sons, Ltd.

Reforming the Eighth-Grade Student Assignment Process for the Philadelphia Public Schools.

ERIC Educational Resources Information Center

Johnson, Michael P.

The eighth grade student assignment project, an initiative of the School District of Philadelphia, assigns students to high school academic programs based on student preferences, academic preparation, program capacity, and desegregation requirements. These programs, called small learning communities (SLCs), emphasize areas such as design and…

PM CONSTITUENT ROLES IN MASS ASSOCIATIONS WITH HEALTH EFFECTS IN PHILADELPHIA, PA

EPA Science Inventory

An environmental and health database was constructed for Philadelphia, PA for the period 1992-1995 in order to assess the importance of PM components in mass associations with adverse health effects. PM data were collected by Harvard University for the U.S. EPA. Daily measureme...

The Effect of Philadelphia and Pennsylvania Clean Indoor Air Act on Food Services and Drinking Places Sales and Numbers, 1998-2011

PubMed Central

Fisher, Monica A.

2013-01-01

Introduction Philadelphia enacted its Clean Indoor Air Act (CIAA) nearly 2 years before the statewide CIAA. In this study, we assessed the economic impact of CIAAs on 4 types of food services and drinking places and addressed the predominant limitation of previous pre–post ban studies, namely the lack of control for confounders and changes in secular trends over time. Methods We analyzed data from Pennsylvania Department of Revenue Quarterly 1998–2011 taxable county-level revenue sales and number of food services and drinking places. Region-specific and type-specific adjusted sales and number of food services and drinking places accounted for consumer spending as a general economic indicator. Segmented regression analysis of interrupted time-series methodology assessed changes in trend and level. Results Pennsylvania CIAA had no significant effect on adjusted sales or numbers except for an increase in sales in Philadelphia for limited-service eating places and in the surrounding 4 counties for special food services. Philadelphia CIAA was associated with an increase in adjusted numbers of full-service restaurants in Philadelphia and the rest of the state, special food services in Philadelphia, and drinking places in the rest of the state, and a decrease in the number of special food services in the surrounding counties. Philadelphia CIAA had no significant effect on adjusted sales except for an increase in special food services in the rest of the state. Conclusion Overall, CIAAs had no negative business-related impact and, for the most part, suggest a positive impact on restaurant sales and numbers. Our results provide further support for comprehensive CIAA ordinance for restaurants. PMID:24286275

Noise measurement program : effect of airport noise on neighboring state : Philadelphia International Airport

DOT National Transportation Integrated Search

1980-01-31

Measurements of acoustic signals from aircraft operations in Pennsylvania and New Jersey around the Philadelphia International Airport during June 5-8, 1979 are reported. Data was collected for nine types of commercial jet aircraft during both arriva...

Use of Subsidized Child Care by Philadelphia Families: Findings and Discussion.

ERIC Educational Resources Information Center

Sterman, Sara Vernon; Dichter, Harriet

The study examined the consequences of delay in enrollment in subsidized child care and the impact of funding on the choices and perceived opportunities of families once they begin receiving child care subsidies. Subjects were 106 working families in Philadelphia who are either using subsidized child care or who are waiting to enroll in the…

Mapping of four distinct BCR-related loci to chromosome region 22q11: order of BCR loci relative to chronic myelogenous leukemia and acute lymphoblastic leukemia breakpoints

DOE Office of Scientific and Technical Information (OSTI.GOV)

Croce, C.M.; Huebner, K.; Isobe, M.

1987-10-01

A probe derived from the 3' region of the BCR gene (breakpoint cluster region gene) detects four distinct loci in the human genome. One of the loci corresponds to the complete BCR gene, whereas the other contain a 3' segment of the gene. After HindIII cleavage of human DNA, these four loci are detected as 23-, 19-, 13-, and 9-kikobase-pair fragments, designated BCR4, BCR3, BCR2, and BCR1, respectively, with BCR1 deriving from the original complete BCR gene. All four BCR loci segregate 100% concordantly with human chromosome 22 in a rodent-human somatic cell hybrid panel and are located at chromosomemore » region 22q11.2 by chromosomal in situ hybridization. The BCR2 and BCR4 loci are amplified in leukemia cell line K562 cells, indicating that they fall within the amplification unit that includes immunoglobulin lambda light chain locus (IGL) and ABL locus on the K562 Philadelphia chromosome (Ph/sup 1/). Similarly, in mouse-human hybrids retaining a Ph/sup 1/ chromosome derived from an acute lymphoblastic leukemia-in the absence of the 9q/sup +/ and 22, only BCR2 and BCR4 loci are retained. Thus, the order of loci on chromosome 22 is centromere ..-->.. BCR2, BCR4, and IGL ..-->.. BCR1 ..-->.. BCR3 ..-->.. SIS, possibly eliminating BCR2 and BCR4 loci as candidate targets for juxtaposition to the ABL gene in the acute lymphoblastic leukemia Ph/sup 1/ chromosome.« less

Characterization of chromosomal architecture in Arabidopsis by chromosome conformation capture

PubMed Central

2013-01-01

Background The packaging of long chromatin fibers in the nucleus poses a major challenge, as it must fulfill both physical and functional requirements. Until recently, insights into the chromosomal architecture of plants were mainly provided by cytogenetic studies. Complementary to these analyses, chromosome conformation capture technologies promise to refine and improve our view on chromosomal architecture and to provide a more generalized description of nuclear organization. Results Employing circular chromosome conformation capture, this study describes chromosomal architecture in Arabidopsis nuclei from a genome-wide perspective. Surprisingly, the linear organization of chromosomes is reflected in the genome-wide interactome. In addition, we study the interplay of the interactome and epigenetic marks and report that the heterochromatic knob on the short arm of chromosome 4 maintains a pericentromere-like interaction profile and interactome despite its euchromatic surrounding. Conclusion Despite the extreme condensation that is necessary to pack the chromosomes into the nucleus, the Arabidopsis genome appears to be packed in a predictive manner, according to the following criteria: heterochromatin and euchromatin represent two distinct interactomes; interactions between chromosomes correlate with the linear position on the chromosome arm; and distal chromosome regions have a higher potential to interact with other chromosomes. PMID:24267747

Heterogeneous Diagnoses Underlying Radial Ray Anomalies.

PubMed

Sevilla-Montoya, Rosalba; Aguinaga, Mónica; Martínez, Alejandro; Razo, Guadalupe; Molina, Bertha; Frías, Sara; Grether, Patricia

2017-03-01

To review perinatal Radial Ray Anomaly (RRA) cases born at the National Institute of Perinatology, Mexico, and to reveal the heterogeneous diagnoses of these patients. All patients with RRA over a 18 mo period were included; 4/15 were detected prenatally and 11/15 postnatally. Karyotype was performed for all patients with bilateral RRA; and chromosomal breakage analysis, when the karyotype was normal. Fifteen RRA patients were identified: one with trisomy 18, three with an isolated defect, six with monogenic disease, four with a genetic association and one with diabetic embryopathy. Five were stillborn and two died during the early neonatal period; all of whom presented with multiple defects. Three of the live born patients and one stillborn with multiple defects had Fanconi anemia. RRAs carry a high perinatal mortality rate (47%) when they occur in association with other defects. The assessment of these patients needs to involve the combined use of ultrasound, clinical, genetic, cytogenetic and molecular testing. The present results indicate that the chromosome breakage test should always be performed to rule out Fanconi anemia in this group.

Why support a women's medical college? Philadelphia's early male medical pro-feminists.

PubMed

Peitzman, Steven J

2003-01-01

The male founders and early faculty of Philadelphia's Woman's Medical College were mostly abolitionist physicians, zealous moralists for whom medical feminism formed only one of the cherished causes they could "manfully" and righteously defend. Male faculty of the late nineteenth century comprised "self-made" men, mostly new specialists, for whom strict sexism probably seemed inconsistent with progressive medicine. For some of these physicians-obviously a small minority-defending medical women and breaking the barriers of fraternity could be consistent with "manly" responsibility. The outcome of the collaboration of women and the dissident men physicians in nineteenth-century Philadelphia amounted to another seeming paradox: the majority of the male medical profession, both locally and nationally, tyrannically hindered women's entry into the profession, yet medicine opened its doors in advance of law and the clergy; and where this first occurred, such as in the community centered on Woman's Medical College, a novel gender rearrangement arose based on collaboration and friendship.

Gametocidal chromosomes enhancing chromosome aberration in common wheat induced by 5-azacytidine.

PubMed

Su, W-Y; Cong, W-W; Shu, Y-J; Wang, D; Xu, G-H; Guo, C-H

2013-07-08

The gametocidal (Gc) chromosome from Aegilops spp induces chromosome mutation, which is introduced into common wheat as a tool of chromosome manipulation for genetic improvement. The Gc chromosome functions similar to a restriction-modification system in bacteria, in which DNA methylation is an important regulator. We treated root tips of wheat carrying Gc chromosomes with the hypomethylation agent 5-azacytidine; chromosome breakage and micronuclei were observed in these root tips. The frequency of aberrations differed in wheat containing different Gc chromosomes, suggesting different functions inducing chromosome breakage. Gc chromosome 3C caused the greatest degree of chromosome aberration, while Gc chromosome 3C(SAT) and 2C caused only slight chromosome aberration. Gc chromosome 3C induced different degrees of chromosome aberration in wheat varieties Triticum aestivum var. Chinese Spring and Norin 26, demonstrating an inhibition function in common wheat.

Black carbon concentrations in a goods-movement neighborhood of Philadelphia, PA

Treesearch

Michelle C. Kondo; Chris Mizes; John Lee; Igor Burstyn

2014-01-01

Communities along the Delaware River in Philadelphia, USA such as Port Richmond, are subject to traffic associated with goods movement to and from port facilities and local industry. Air pollution associated with this traffic poses an environmental health concern in this and other urban areas. Our study measures black carbon (BC) in Port Richmond and examines its...

Postnatal outcomes of prenatally diagnosed 45,X/46,XX.

PubMed

Tokita, Mari J; Sybert, Virginia P

2016-05-01

High quality information is critical for informed decision-making in pregnancy following a prenatal diagnosis of sex chromosome aneuploidy. The goal of this study was to define the spectrum of outcomes in patients with prenatally diagnosed 45,X/46,XX mosaic Turner syndrome in order to provide a better basis for genetic counseling at the time of intrauterine diagnosis. Phenotype data for twenty-five patients with prenatally diagnosed 45,X/46,XX mosaicism were collected by retrospective chart review and, when possible, semi-structured telephone interview. Existing data from a cohort of 58 patients with postnatally diagnosed 45,X/46,XX mosaicism were used for comparison. Relative to those diagnosed postnatally, prenatal patients were more likely to have normal growth and normal secondary sexual development, less likely to manifest distinctive Turner syndrome features such as nuchal webbing and edema, and had significantly fewer renal defects. These differences underscore the need for a nuanced approach to prenatal counseling in cases of 45,X/46,XX mosaicism. © 2016 Wiley Periodicals, Inc.

Artificial Neural Network for the Prediction of Chromosomal Abnormalities in Azoospermic Males.

PubMed

Akinsal, Emre Can; Haznedar, Bulent; Baydilli, Numan; Kalinli, Adem; Ozturk, Ahmet; Ekmekçioğlu, Oğuz

2018-02-04

To evaluate whether an artifical neural network helps to diagnose any chromosomal abnormalities in azoospermic males. The data of azoospermic males attending to a tertiary academic referral center were evaluated retrospectively. Height, total testicular volume, follicle stimulating hormone, luteinising hormone, total testosterone and ejaculate volume of the patients were used for the analyses. In artificial neural network, the data of 310 azoospermics were used as the education and 115 as the test set. Logistic regression analyses and discriminant analyses were performed for statistical analyses. The tests were re-analysed with a neural network. Both logistic regression analyses and artificial neural network predicted the presence or absence of chromosomal abnormalities with more than 95% accuracy. The use of artificial neural network model has yielded satisfactory results in terms of distinguishing patients whether they have any chromosomal abnormality or not.

28. PERSPECTIVE VIEW OF THE PHILADELPHIA BRIGADE (69TH, 71ST, 72ND ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

28. PERSPECTIVE VIEW OF THE PHILADELPHIA BRIGADE (69TH, 71ST, 72ND & 100TH PA. VOL. INF.), MONUMENT, IN GROVE ALONG WEST SIDE OF OLD HAGERSTOWN PIKE, NORTH OF DUNKER CHURCH - Antietam National Battlefield, Sharpsburg, Washington County, MD

27. FRONT ELEVATION OF THE PHILADELPHIA BRIGADE (69TH, 71ST, 72ND ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

27. FRONT ELEVATION OF THE PHILADELPHIA BRIGADE (69TH, 71ST, 72ND & 100TH PA. VOL. INF.), MONUMENT, IN GROVE ALONG WEST SIDE OF OLD HAGERSTOWN PIKE, NORTH OF DUNKER CHURCH - Antietam National Battlefield, Sharpsburg, Washington County, MD

Construction of human chromosome 21-specific yeast artificial chromosomes

DOE Office of Scientific and Technical Information (OSTI.GOV)

McCormick, M.K.; Shero, J.H.; Hieter, P.A.

1989-12-01

Chromosome 21-specific yeast artificial chromosomes (YACs) have been constructed by a method that performs all steps in agarose, allowing size selection by pulsed-field gel electrophoresis and the use of nanogram to microgram quantities of DNA. The DNA sources used were hybrid cell line WAV-17, containing chromosome 21 as the only human chromosome and flow-sorted chromosome 21. The transformation efficiency of ligation products was similar to that obtained in aqueous transformations and yielded YACs with sizes ranging from 100 kilobases (kb) to > 1 megabase when polyamines were included in the transformation procedure. Twenty-five YACs containing human DNA have been obtainedmore » from a mouse-human hybrid, ranging in size from 200 to > 1000 kb, with an average size of 410 kb. Ten of these YACs were localized to subregions of chromosome 21 by hybridization of RNA probes to a panel of somatic cell hybrid DNA. Twenty-one human YACs, ranging in size from 100 to 500 kb, with an average size of 150 kb, were obtained from {approx} 50 ng of flow-sorted chromosome 21 DNA. Three were localized to subregions of chromosome 21. YACs will aid the construction of a physical map of human chromosome 21 and the study of disorders associated with chromosome 21 such as Alzheimer disease and Down syndrome.« less

[Prenatal diagnosis of X-linked anhidrotic ectodermal dysplasia with X-chromosome inversion].

PubMed

Shi, Hui-juan; Fang, Qun; Wang, Lian-tang

2005-07-13

To investigate the possibility of prenatal diagnosis of the fetal suspected to be affected by anhidrotic ectodermal dysplasia (EDA) in a family with X-linked EDA so as to provide a basis for prenatal diagnosis and genetic counseling of this disorder. Pedigree analysis and genetic counseling were performed in a family after a proband was diagnosed with EDA. The peripheral blood samples were collected from the proband, a 12-year-old boy, his mother, and his 2 aunts, one being pregnant, to undergo chromosome karyotype analysis. The fetus Puncture of umbilical vein was performed to collect the blood of fetus for chromosome examination. Induced abortion was conducted due to the diagnosis of the fetus with EDA. Autopsy, immunohistochemistry of the skin tissues of face, breast, epigastrium, and thigh, and X-ray photography of the lower jawbone were made. Pericentric inversion occurring at one of the X-chromosome [inv (x) (p22q13)] was found in the proband and his nephew (the fetus), both patients, and his mother and his second aunt (the pregnant woman), both carriers. Autopsy of the fetus showed epidermis dysplasia and deficiency of hair follicle and sebaceous gland. Immunohistochemistry showed that epithelial membrane antigen and cytokeratin were negatively expressed in the fetal skin tissues. Pedigree analysis and genetic counseling for the family members of EDA patients and prenatal and postpartum examination for the fetus help diagnose EDA.

Using Multispectral Analysis in GIS to Model the Potential for Urban Agriculture in Philadelphia

NASA Astrophysics Data System (ADS)

Dmochowski, J. E.; Cooper, W. P.

2010-12-01

In the context of growing concerns about the international food system’s dependence on fossil fuels, soil degradation, climate change, and other diverse issues, a number of initiatives have arisen to develop and implement sustainable agricultural practices. Many seeking to reform the food system look to urban agriculture as a means to create localized, sustainable agricultural production, while simultaneously providing a locus for community building, encouraging better nutrition, and promoting the rebirth of depressed urban areas. The actual impact of such system, however, is not well understood, and many critics of urban agriculture regard its implementation as impractical and unrealistic. This project uses multispectral imagery from United States Department of Agriculture’s National Agricultural Imagery Program with a one-meter resolution to quantify the potential for increasing urban agriculture in an effort to create a sustainable food system in Philadelphia. Color infrared images are classified with a minimum distance algorithm in ArcGIS to generate baseline data on vegetative cover in Philadelphia. These data, in addition to mapping on the ground, form the basis of a model of land suitable for conversion to agriculture in Philadelphia, which will help address questions related to potential yields, workforce, and energy requirements. This research will help city planners, entrepreneurs, community leaders, and citizens understand how urban agriculture can contribute to creating a sustainable food system in a major North American city.

78 FR 76779 - Proposed Modification of the Philadelphia, PA, Class B Airspace Area

Federal Register 2010, 2011, 2012, 2013, 2014

2013-12-19

... regulatory and informational requirements to the scale of the businesses, organizations, and governmental... businesses, not-for-profit organizations, and small governmental jurisdictions. Agencies must perform a... southeast than intended from the Philadelphia International Airport. This was caused by the miscalculation...

Detection of sex chromosome aneuploidies using quantitative fluorescent PCR in the Hungarian population.

PubMed

Nagy, Balint; Nagy, Richard Gyula; Lazar, Levente; Schonleber, Julianna; Papp, Csaba; Rigo, Janos

2015-05-20

Aneuploidies are the most frequent chromosomal abnormalities at birth. Autosomal aneuploidies cause serious malformations like trisomy 21, trisomy 18 and trisomy 13. However sex chromosome aneuploidies are causing less severe syndromes. For the detection of these aneuploidies, the "gold standard" method is the cytogenetic analysis of fetal cells, karyograms show all numerical and structural abnormalities, but it takes 2-4 weeks to get the reports. Molecular biological methods were developed to overcome the long culture time, thus, FISH and quantitative fluorescent PCR were introduced. In this work we show our experience with a commercial kit for the detection of sex chromosome aneuploidies. We analyzed 20.173 amniotic fluid samples for the period of 2006-2013 in our department. A conventional cytogenetic analysis was performed on the samples. We checked the reliability of quantitative fluorescent PCR and DNA fragment analysis on those samples where sex chromosomal aneuploidy was diagnosed. From the 20.173 amniotic fluid samples we found 50 samples with sex chromosome aneuploidy. There were 19 samples showing 46, XO, 17 samples with 46, XXY, 9 samples with 47, XXX and 5 samples with 47, XYY karyotypes. The applied quantitative fluorescent PCR and DNA fragment analyses method are suitable to detect all abnormal sex chromosome aneuploidies. Quantitative fluorescent PCR is a fast and reliable method for detection of sex chromosome aneuploidies. Copyright © 2015. Published by Elsevier B.V.

How Philadelphia is Integrating Climate Science and Policy: Changing Capital Planning Processes and Developing Flood-Depth Tools

NASA Astrophysics Data System (ADS)

Bhat, C.; Dix, B.; Choate, A.; Wong, A.; Asam, S.; Schultz, P. A.

2016-12-01

Policy makers can implement more effective climate change adaptation programs if they are provided with two tools: accessible information on the impacts that they need to prepare for, and clear guidance on how to integrate climate change considerations into their work. This presentation will highlight recent and ongoing efforts at the City of Philadelphia to integrate climate science into their decision-making. These efforts include developing a climate change information visualization tool, climate change risk assessments across the city, and processes to integrate climate change into routine planning and budgeting practices. The goal of these efforts is to make climate change science highly targeted to decision maker needs, non-political, easily accessible, and actionable. While sea level rise inundation maps have been available to communities for years, the maps do not effectively communicate how the design of a building or a piece of infrastructure would need to be modified to protect it. The Philadelphia Flood Risk Viewer is an interactive planning tool that allows Philadelphia to identify projected depths of flooding for any location within the City, for a variety of sea level rise and storm surge scenarios. Users can also determine whether a location is located in a FEMA floodplain. By having access to information on the projected depth of flooding at a given location, the City can determine what flood protection measures may be effective, or even inform the long-term viability of developing a particular area. With an understanding of climate vulnerabilities, cities have the opportunity to make smart, climate-resilient investments with their capital budgets that will yield multiple benefits for years to come. Few, however, have established protocols for doing so. Philadelphia, with support from ICF, developed a guidance document that identifies recommendations for integrating climate change considerations throughout the Capital Program and capital budgeting

Micromanipulation studies of chromosome movement. II. Birefringent chromosomal fibers and the mechanical attachment of chromosomes to the spindle

PubMed Central

1979-01-01

The degree of mechanical coupling of chromosomes to the spindles of Nephrotoma and Trimeratropis primary spermatocytes varies with the stage of meiosis and the birefringent retardation of the chromosomal fibers. In early prometaphase, before birefringent chromosomal fibers have formed, a bivalent can be displaced toward a spindle pole by a single, continuous pull with a microneedle. Resistance to poleward displacement increases with increased development of the chromosomal fibers, reaching a maximum at metaphase. At this stage kinetochores cannot be displaced greater than 1 micrometer toward either spindle pole, even by a force which is sufficient to displace the entire spindle within the cell. The abolition of birefringence with either colcemid or vinblastine results in the loss of chromosome-spindle attachment. In the absence of birefringent fibers a chromosome can be displaced anywhere within the cell. The photochemical inactivation of colcemid by irradiation with 366-nm light results in the reformation of birefringent chromosomal fibers and the concomitant re-establishment of chromosome attachment to the spindle. These results support the hypothesis that the birefringent chromosomal fibers anchor the chromosomes to the spindle and transmit the force for anaphase chromosome movement. PMID:479316

B-acute lymphoblastic leukemia and cystinuria in a patient with duplication 22q11.21 detected by chromosomal microarray analysis.

PubMed

Chang, Vivian Y; Quintero-Rivera, Fabiola; Baldwin, Erin E; Woo, Kathy; Martinez-Agosto, Julian A; Fu, Cecilia; Gomperts, Brigitte N

2011-03-01

Duplication 22q11.2 syndrome is the result of a microduplication of the same chromosomal region that is deleted in DiGeorge and Velocardiofacial syndromes. We describe a patient with dysmorphic features who was diagnosed with pre-B acute lymphoblastic leukemia, and developed cystinuria and pancreatitis during treatment. Duplication 22q11.2 has not been previously described in association with hematologic abnormalities. Chromosomal microarray technology was used to diagnose duplication 22q11.2 syndrome. In this era of advanced genomics, this technology has become an important method for helping to determine the molecular basis of diseases, best treatments and ultimately patient outcomes. Copyright © 2010 Wiley-Liss, Inc.

Chromosome Abnormalities

MedlinePlus

... chromosome has attached to another at the centromere. Inversions: A portion of the chromosome has broken off, ... individual and was not inherited from the parents. Inversion: A portion of the chromosome has broken off, ...

The gametocidal chromosome as a tool for chromosome manipulation in wheat.

PubMed

Endo, T R

2007-01-01

Many alien chromosomes have been introduced into common wheat (the genus Triticum) from related wild species (the genus Aegilops). Some alien chromosomes have unique genes that secure their existence in the host by causing chromosome breakage in the gametes lacking them. Such chromosomes or genes, called gametocidal (Gc) chromosomes or Gc genes, are derived from different genomes (C, S, S(l) and M(g)) and belong to three different homoeologous groups 2, 3 and 4. The Gc genes of the C and M(g) genomes induce mild, or semi-lethal, chromosome mutations in euploid and alien addition lines of common wheat. Thus, induced chromosomal rearrangements have been identified and established in wheat stocks carrying deletions of wheat and alien (rye and barley) chromosomes or wheat-alien translocations. The gametocidal chromosomes isolated in wheat to date are reviewed here, focusing on their feature as a tool for chromosome manipulation.

SEASONAL ABUNDANCE OF ORGANIC MOLECULAR MARKERS IN URBAN PARTICULATE MATTER FROM PHILADELPHIA, PA

EPA Science Inventory

Organic molecular markers were measured in airborne particulate matter (PM₁₀) from the City of Philadelphia North Broad Street air quality monitoring site to identify the seasonal abundances of key tracer compounds together with their dominant sources. Daily PM_10...

Copy number neutral loss of heterozygosity at 17p and homozygous mutations of TP53 are associated with complex chromosomal aberrations in patients newly diagnosed with myelodysplastic syndromes.

PubMed

Svobodova, Karla; Zemanova, Zuzana; Lhotska, Halka; Novakova, Milena; Podskalska, Lucie; Belickova, Monika; Brezinova, Jana; Sarova, Iveta; Izakova, Silvia; Lizcova, Libuse; Berkova, Adela; Siskova, Magda; Jonasova, Anna; Cermak, Jaroslav; Michalova, Kyra

2016-03-01

Complex karyotypes are seen in approximately 20% of patients with myelodysplastic syndromes (MDS) and are associated with a high risk of transformation to acute myeloid leukemia and poor outcomes in patients. Copy number neutral loss of heterozygosity (CN-LOH, i.e., both copies of a chromosomal pair or their parts originate from one parent) might contribute to increased genomic instability in the bone-marrow cells of patients with MDS. The pathological potential of CN-LOH, which arises as a clonal aberration in a proportion of somatic cells, consists of tumor suppressor gene and oncogene homozygous mutations. The aim of our study was to evaluate the frequency of CN-LOH at 17p in bone-marrow cells of newly diagnosed MDS patients with complex chromosomal aberrations and to assess its correlation with mutations in the TP53 gene (17p13.1). CN-LOH was detected in 40 chromosomal regions in 21 (29%) of 72 patients analyzed. The changes in 27 of the 40 regions identified were sporadic. The most common finding was CN-LOH of the short arm of chromosome 17, which was detected in 13 (18%) of 72 patients. A mutational analysis confirmed the homozygous mutation of TP53 in all CN-LOH 17p patients, among which two frameshift mutations are not registered in the International Agency for Research on Cancer TP53 Database. CN-LOH 17p correlated with aggressive disease (median overall survival 4 months) and was strongly associated with a complex karyotype in the cohort studied, which might cause rapid disease progression in high-risk MDS. No other CN-LOH region previously recorded in MDS or AML patients (1p, 4q, 7q, 11q, 13q, 19q, 21q) was detected in our cohort of patients with complex karyotype examined at the diagnosis of MDS. The LOH region appeared to be balanced (i.e., with no DNA copy number change) when examined with conventional and molecular cytogenetic methods. Therefore, a microarray that detects single-nucleotide polymorphisms is an ideal method with which to identify and

Phylogenetic Reconstruction of the Legionella pneumophila Philadelphia-1 Laboratory Strains through Comparative Genomics

PubMed Central

Ensminger, Alexander W.

2013-01-01

Over 20 years ago, two groups independently domesticated Legionella pneumophila from a clinical isolate of bacteria collected during the first recognized outbreak of Legionnaires’ disease (at the 1976 American Legion’s convention in Philadelphia). These two laboratory strains, JR32 and Lp01, along with their derivatives, have been disseminated to a number of laboratories around the world and form the cornerstone of much of the research conducted on this important pathogen to date. Nevertheless, no exhaustive examination of the genetic distance between these strains and their clinical progenitor has been performed thus far. Such information is of paramount importance for making sense of several phenotypic differences observed between these strains. As environmental replication of L. pneumophila is thought to exclusively occur within natural protozoan hosts, retrospective analysis of the domestication and axenic culture of the Philadelphia-1 progenitor strain by two independent groups also provides an excellent opportunity to uncover evidence of adaptation to the laboratory environment. To reconstruct the phylogenetic relationships between the common laboratory strains of L. pneumophila Philadelphia-1 and their clinical ancestor, we performed whole-genome Illumina resequencing of the two founders of each laboratory lineage: JR32 and Lp01. As expected from earlier, targeted studies, Lp01 and JR32 contain large deletions in the lvh and tra regions, respectively. By sequencing additional strains derived from Lp01 (Lp02 and Lp03), we retraced the phylogeny of these strains relative to their reported ancestor, thereby reconstructing the evolutionary dynamics of each laboratory lineage from genomic data. PMID:23717549

77 FR 45290 - Proposed Modification of Class B Airspace Area; Philadelphia, PA

Federal Register 2010, 2011, 2012, 2013, 2014

2012-07-31

... be changed in light of comments received. All comments submitted will be available for examination in... establishment as a TCA in 1975. Since then, increasing operations have prompted a number of changes at the Philadelphia International Airport (PHL). For example, a new runway (8/ 26) was opened for use in December 1999...

Unfulfilled Promise: The Dimensions and Characteristics of Philadelphia's Dropout Crisis, 2000-2005

ERIC Educational Resources Information Center

Neild, Ruth Curran; Balfanz, Robert

2006-01-01

This report uses a unique set of data obtained from the Kids Integrated Data System (KIDS), which is housed at the University of Pennsylvania's Cartographic Modeling Laboratory. The KIDS system merges individual-level data on young people from the School District of Philadelphia and the city's social service agencies, including the Department of…

Chromosomes

MedlinePlus

... Sheets A Brief Guide to Genomics About NHGRI Research About the International HapMap Project Biological Pathways Chromosome Abnormalities Chromosomes Cloning Comparative Genomics DNA Microarray Technology DNA Sequencing Deoxyribonucleic Acid ( ...

ASSOCIATIONS BETWEEN PARTICULATE MATTER COMPONENTS AND DAILY MORTALITY AND MORBIDITY IN PHILADELPHIA, PA

EPA Science Inventory

In evaluating the health risks from particulate matter (PM), the question remains as to which component(s) of PM are most harmful. We investigated this issue using PM mass, PM constituents, mortality, and the elderly hospital admission data in Philadelphia, PA. Daily paired PM...

Urban ecosystem services and decision making for a green Philadelphia

USGS Publications Warehouse

Hogan, Dianna M.; Shapiro, Carl D.; Karp, David N.; Wachter, Susan M.

2014-01-01

Traditional approaches to urban development often do not account for, or recognize, the role of ecosystem services and the benefits these services provide to the health and well-being of city residents. Without such accounting, urban ecosystem services are likely to be degraded over time, with negative consequences for the sustainability of cities and the well-being of their residents (Millennium Ecosystem Assessment, 2005; Hirsch, 2008). On May 23, 2013, the Spatial Integration Laboratory for Urban Systems (SILUS), a collaboration between the U.S. Geological Survey (USGS) Science and Decisions Center and the Wharton GIS Lab, convened a one-day symposium—Urban Ecosystem Services and Decision Making: A Green Philadelphia—at the University of Pennsylvania in Philadelphia, Pennsylvania, to examine the role of green infrastructure in the environmental, economic, and social well-being of cities. Cosponsored by the USGS and the Penn Institute for Urban Research (Penn IUR), the symposium brought together policymakers, practitioners, and researchers from a range of disciplines to advance a research agenda on the use of science in public decision making to inform investment in green infrastructure and ecosystem services in urban areas. The city of Philadelphia has recently implemented a program designed to sustain urban ecosystem services and advance the use of green infrastructure. In 2009, the Philadelphia Mayor’s Office of Sustainability launched its Greenworks plan, establishing a citywide sustainability strategy. Major contributions towards its goals are being implemented in coordination with the Philadelphia Water Department (PWD). The Green City, Clean Waters initiative, the city’s nationally recognized stormwater management plan, was signed into action with the U.S. Environmental Protection Agency (EPA) in April 2012. The plan outlines a 25-year strategy to use green infrastructure to protect and improve the city’s watershed. Widespread support for the

[Chromosome abnormalities associated with Phl and acturial survivorship curve in chronic myeloid leukemia. Probabilistic interpretation of blastic transformation of CML].

PubMed

Coutris, G

1981-12-01

Sixty-six patients with chronic myelogenous leukemia, all with Philadelphia chromosome, have been studied for chromosomic abnormalities associated (CAA) to Ph', as well as for actuarial curve of survivorship. Patients dying from another disease were excluded from this study. Frequency of cells with CAA was measured and appeared strongly higher after blastic transformation than during myelocytic state; probability to be a blastic transformation is closely correlated with this frequency. On the other hand, actuarial curve of survivorship is very well represented by an exponential curve. This suggests a constant rate of death during disease evolution, for these patients without intercurrent disease. As a mean survivance after blastic transformation is very shorter than myelocytic duration, a constant rate of blastic transformation could be advanced: it explains possible occurrence of transformation as soon as preclinic state of a chronic myelogenous leukemia. Even if CAA frequency increases after blastic transformation, CAA can occur a long time before it and do not explain it: submicroscopic origin should be searched for the constant rate of blastic transformation would express the risk of a genic transformation at a constant rate during myelocytic state.

Young People Take Their Rightful Places as Full and Contributing Members of a World Class Workforce: Philadelphia Youth Network Annual Report 2006

ERIC Educational Resources Information Center

Philadelphia Youth Network, 2006

2006-01-01

The title of this year's annual report has particular meaning for all of the staff at the Philadelphia Youth Network. The phrase derives from Philadelphia Youth Network's (PYN's) new vision statement, developed as part of its recent strategic planning process, which reads: All of our city's young people take their rightful places as full and…

Making Sense of Standards: Implementation Issues and the Impact on Teaching Practice. Children Achieving: Philadelphia's Education Reform. Progress Report Series 1996-1997.

ERIC Educational Resources Information Center

Simon, Elaine; Foley, Ellen; Passantino, Claire

The focus of this report is the way standards are influencing instruction in Philadelphia classrooms and how the various parts of the system are working together to support standards-driven instruction at the classroom level. The 1996-97 school year was still an early one in the implementation of standards-based instruction in Philadelphia. The…

A Novel Four-Way Complex Variant Translocation Involving Chromosome 46,XY,t(4;9;19;22)(q25:q34;p13.3;q11.2) in a Chronic Myeloid Leukemia Patient

PubMed Central

Asif, Muhammad; Jamal, Mohammad Sarwar; Khan, Abdul Rehman; Naseer, Muhammad Imran; Hussain, Abrar; Choudhry, Hani; Malik, Arif; Khan, Shahida Aziz; Mahmoud, Maged Mostafa; Ali, Ashraf; Iram, Saima; Kamran, Kashif; Iqbal, Asim; Abduljaleel, Zainularifeen; Pushparaj, Peter Natesan; Rasool, Mahmood

2016-01-01

Philadelphia (Ph) chromosome (9;22)(q34;q11) is well established in more than 90% of chronic myeloid leukemia (CML) patients, and the remaining 5–8% of CML patients show variant and complex translocations, with the involvement of third, fourth, or fifth chromosome other than 9;22. However, in very rare cases, the fourth chromosome is involved. Here, we found a novel case of four-way Ph+ chromosome translocation involving 46,XY,t(4;9;19;22)(q25:q34;p13.3;q11.2) with CML in the chronic phase. Complete blood cell count of the CML patient was carried out to obtain total leukocytes count, hemoglobin, and platelets. Fluorescence in situ hybridization technique was used for the identification of BCR–ABL fusion gene, and cytogenetic test for the confirmation of Ph (9;22)(q34;q11) and the mechanism of variant translocation in the bone marrow. The patient is successfully treated with a dose of 400 mg/day imatinib mesylate (Gleevec). We observed a significant decrease in white blood cell count of 11.7 × 109/L after 48-month follow-up. Patient started feeling better generally. There was a reduction in the swelling of the body, fatigue, and anxiety. PMID:27303656

The Short-Term Impacts of the Philadelphia Beverage Tax on Beverage Consumption.

PubMed

Zhong, Yichen; Auchincloss, Amy H; Lee, Brian K; Kanter, Genevieve P

2018-04-11

On January 1, 2017, Philadelphia implemented a beverage tax of $0.015/ounce on sugar ("regular") and sugar-substitute ("diet") beverages. The purpose of this study was to evaluate the immediate impact of the tax on residents' consumption of soda, fruit drinks, energy drinks, and bottled water. A repeat cross-sectional study design used data from a random-digit-dialing phone survey during a no-tax period (December 6-31, 2016) and a tax period (January 15-February 31, 2017) among 899 respondents in Philadelphia, Pennsylvania, and 878 respondents in three nearby comparison cities. Survey questions included frequency and volume of bottled water and beverages. Outcomes were daily consumption, and 30-day consumption frequency and volume. Propensity score-weighted difference-in-differences regression was used to control for secular time trend and confounding. Covariates were sociodemographics, BMI, health status, smoking, and alcohol use. Analyses were conducted in 2017. Within the first 2 months of tax implementation, relative to the comparison cities, in Philadelphia the odds of daily consumption of regular soda was 40% lower (OR=0.6, 95% CI=0.37, 0.97); energy drink was 64% lower (OR=0.36, 95% CI=0.17, 0.76); bottled water was 58% higher (OR=1.58, 95% CI=1.13, 2.20); and the 30-day regular soda consumption frequency was 38% lower (ratio of consumption frequency=0.62, 95% CI=0.40, 0.98). Early results suggest that the tax influenced daily consumption of regular soda, energy drinks, and bottled water. Future studies are needed to evaluate longer-term impact of the tax on sugared beverage consumption and substitutions. Copyright © 2018 American Journal of Preventive Medicine. Published by Elsevier Inc. All rights reserved.

Contracting Out Schools: The First Year of the Philadelphia Diverse Provider Model

ERIC Educational Resources Information Center

Bulkley, Katrina; Mundell, Leah; Riffer, Morgan

2004-01-01

Educators nationwide focused on Philadelphia in the summer of 2001 as politicians and policy makers explored the possibility of a state takeover of the city's school system, a seismic power shift that would produce the largest privatization of a public school district in American history. The findings reported in this document are based on…

A new chromosome was born: comparative chromosome painting in Boechera.

PubMed

Koch, Marcus A

2015-09-01

Comparative chromosome painting is a powerful tool to study the evolution of chromosomes and genomes. Analyzing karyotype evolution in cruciferous plants highlights the origin of aberrant chromosomes in apomictic Boechera and further establishes the cruciferous plants as important model system for our understanding of plant chromosome and genome evolution. Copyright © 2015 Elsevier Ltd. All rights reserved.

Prevalence and prognostic impact of allelic imbalances associated with leukemic transformation of Philadelphia chromosome–negative myeloproliferative neoplasms

PubMed Central

Krug, Utz O.; Lee, Dhong Hyun Tony; Kawamata, Norihiko; Iwanski, Gabriela B.; Lasho, Terra; Weiss, Tamara; Nowak, Daniel; Koren-Michowitz, Maya; Kato, Motohiro; Sanada, Masashi; Shih, Lee-Yung; Nagler, Arnon; Raynaud, Sophie D.; Müller-Tidow, Carsten; Mesa, Ruben; Haferlach, Torsten; Gilliland, D. Gary; Tefferi, Ayalew; Ogawa, Seishi; Koeffler, H. Phillip

2010-01-01

Philadelphia chromosome–negative myeloproliferative neoplasms (MPNs) including polycythemia vera, essential thrombocythemia, and primary myelofibrosis show an inherent tendency for transformation into leukemia (MPN-blast phase), which is hypothesized to be accompanied by acquisition of additional genomic lesions. We, therefore, examined chromosomal abnormalities by high-resolution single nucleotide polymorphism (SNP) array in 88 MPN patients, as well as 71 cases with MPN-blast phase, and correlated these findings with their clinical parameters. Frequent genomic alterations were found in MPN after leukemic transformation with up to 3-fold more genomic changes per sample compared with samples in chronic phase (P < .001). We identified commonly altered regions involved in disease progression including not only established targets (ETV6, TP53, and RUNX1) but also new candidate genes on 7q, 16q, 19p, and 21q. Moreover, trisomy 8 or amplification of 8q24 (MYC) was almost exclusively detected in JAK2V617F− cases with MPN-blast phase. Remarkably, copy number–neutral loss of heterozygosity (CNN-LOH) on either 7q or 9p including homozygous JAK2V617F was related to decreased survival after leukemic transformation (P = .01 and P = .016, respectively). Our high-density SNP-array analysis of MPN genomes in the chronic compared with leukemic stage identified novel target genes and provided prognostic insights associated with the evolution to leukemia. PMID:20068225

Y-chromosome evolution: emerging insights into processes of Y-chromosome degeneration.

PubMed

Bachtrog, Doris

2013-02-01

The human Y chromosome is intriguing not only because it harbours the master-switch gene that determines gender but also because of its unusual evolutionary history. The Y chromosome evolved from an autosome, and its evolution has been characterized by massive gene decay. Recent whole-genome and transcriptome analyses of Y chromosomes in humans and other primates, in Drosophila species and in plants have shed light on the current gene content of the Y chromosome, its origins and its long-term fate. Furthermore, comparative analysis of young and old Y chromosomes has given further insights into the evolutionary and molecular forces triggering Y-chromosome degeneration and into the evolutionary destiny of the Y chromosome.

Undetected sex chromosome aneuploidy by chromosomal microarray.

PubMed

Markus-Bustani, Keren; Yaron, Yuval; Goldstein, Myriam; Orr-Urtreger, Avi; Ben-Shachar, Shay

2012-11-01

We report on a case of a female fetus found to be mosaic for Turner syndrome (45,X) and trisomy X (47,XXX). Chromosomal microarray analysis (CMA) failed to detect the aneuploidy because of a normal average dosage of the X chromosome. This case represents an unusual instance in which CMA may not detect chromosomal aberrations. Such a possibility should be taken into consideration in similar cases where CMA is used in a clinical setting. © 2012 John Wiley & Sons, Ltd.

Chromosomes, conflict, and epigenetics: chromosomal speciation revisited.

PubMed

Brown, Judith D; O'Neill, Rachel J

2010-01-01

Since Darwin first noted that the process of speciation was indeed the "mystery of mysteries," scientists have tried to develop testable models for the development of reproductive incompatibilities-the first step in the formation of a new species. Early theorists proposed that chromosome rearrangements were implicated in the process of reproductive isolation; however, the chromosomal speciation model has recently been questioned. In addition, recent data from hybrid model systems indicates that simple epistatic interactions, the Dobzhansky-Muller incompatibilities, are more complex. In fact, incompatibilities are quite broad, including interactions among heterochromatin, small RNAs, and distinct, epigenetically defined genomic regions such as the centromere. In this review, we will examine both classical and current models of chromosomal speciation and describe the "evolving" theory of genetic conflict, epigenetics, and chromosomal speciation.

Geohydrology and ground-water resources of Philadelphia, Pennsylvania

USGS Publications Warehouse

Paulachok, Gary N.

1991-01-01

The aquifers underlying the 134.6-square-mile city of Philadelphia are divided by the Fall Line into the unconsolidated aquifers (chiefly sand and gravel) of the Coastal Plain and the consolidated-rock aquifers (chiefly schist of the Wissahickon Formation) of the Piedmont. Ground water is present under confined and unconfined conditions. The principal units of the confined-aquifer system are the lower and middle sands of the Potomac-Raritan-Magothy aquifer system. The lower sand unit is the most productive aquifer in Philadelphia. The median yield of wells screened in the lower sand unit is 275 gal/min (gallons per minute), and yields of some wells are as high as 1,350 gal/min. The median specific capacity is 16 (gal/min)/ft (gallons per minute per foot of drawdown). The principal units of the unconsolidated unconfined-aquifer system are the upper sand unit of the Potomac-Raritan-Magothy aquifer system and the informally named Trenton gravel. The median yield of wells tapping these two undifferentiated units is 90 gal/min, and yields of some wells are as high as 1,370 gal/min. The median specific capacity is 12 (gal/min)/ft. The consolidated unconfined-aquifer system consists mainly of the Wissahickon Formation. The median yield of nondomestic wells that tap the Wissahickon Formation is 45 gal/min, and yields are as high as 350 gal/min. The median specific capacity is 0.5 (gal/min)/ft. Urbanization has considerably modified the hydrologic cycle in Philadelphia. Impervious surfaces have reduced recharge areas and evapotranspiration and have increased direct runoff. Leakage from the water-distribution system, which is supplied from the Delaware and Schuylkill Rivers, was about 60 to 72 Mgal/d (million gallons per day) in 1980. Groundwater infiltration to sewers is estimated to be as much as 135 Mgal/d when the water table is high. The potentiometric surface of the lower sand unit has been lowered substantially by pumping. By 1954, cones of depression were more than

78 FR 75902 - Approval and Promulgation of Air Quality Implementation Plans; Pennsylvania; Philadelphia County...

Federal Register 2010, 2011, 2012, 2013, 2014

2013-12-13

...] Approval and Promulgation of Air Quality Implementation Plans; Pennsylvania; Philadelphia County Reasonably Available Control Technology Under the 1997 8-Hour Ozone National Ambient Air Quality Standard AGENCY... Department of Environmental Protection, Bureau of Air Quality Control, P.O. Box 8468, 400 Market Street...

Intermediate dose of imatinib in combination with chemotherapy followed by allogeneic stem cell transplantation improves early outcome in paediatric Philadelphia chromosome-positive acute lymphoblastic leukaemia (ALL): results of the Spanish Cooperative Group SHOP studies ALL-94, ALL-99 and ALL-2005.

PubMed

Rives, Susana; Estella, Jesús; Gómez, Pedro; López-Duarte, Mónica; de Miguel, Purificación García; Verdeguer, Amparo; Moreno, Maria José; Vivanco, José Luis; Couselo, José Miguel; Fernández-Delgado, Rafael; Maldonado, Marisol; Tasso, María; López-Ibor, Blanca; Lendínez, Francisco; López-Almaraz, Ricardo; Uriz, Javier; Melo, Montserrat; Fernández-Teijeiro, Ana; Rodríguez, Isidoro; Badell, Isabel

2011-09-01

Philadelphia-chromosome acute lymphoblastic leukaemia (Ph+ ALL) is a subgroup of ALL with very high risk of treatment failure. We report here the results of the Sociedad Española de Hematología y Oncología Pediátricas (SEHOP/SHOP) in paediatric Ph+ ALL treated with intermediate-dose imatinib concurrent with intensive chemotherapy. The toxicities and outcome of these patients were compared with historical controls not receiving imatinib. Patients with Ph+ ALL aged 1-18years were enrolled in three consecutive ALL/SHOP trials (SHOP-94/SHOP-99/SHOP-2005). In the SHOP-2005 trial, imatinib (260mg/m(2) per day) was given on day-15 of induction. Allogeneic haematopoietic stem-cell transplantation (HSCT) from a matched related or unrelated donor was scheduled in first complete remission (CR1). Forty-three patients were evaluable (22 boys, median age 6·8years, range, 1·2-15). Sixteen received imatinib whereas 27 received similar chemotherapy without imatinib. Seventeen of 27 and 15 of 16 patients in the non-imatinib and imatinib cohort, respectively, underwent HSCT in CR1. With a median follow-up of 109 and 39months for the non-imatinib and imatinib cohorts, the 3-year event-free survival (EFS) was 29·6% and 78·7%, respectively (P=0·01). These results show that, compared to historical controls, intermediate dose of imatinib given concomitantly with chemotherapy and followed by allogeneic HSCT markedly improved early EFS in paediatric Ph+ ALL. © 2011 Blackwell Publishing Ltd.

Trend Analyses of Users of a Syringe Exchange Program in Philadelphia, Pennsylvania: 1999-2014.

PubMed

Maurer, Laurie A; Bass, Sarah Bauerle; Ye, Du; Benitez, José; Mazzella, Silvana; Krafty, Robert

2016-12-01

This study examines trends of injection drug users' (IDUs) use of a Philadelphia, Pennsylvania, syringe exchange program (SEP) from 1999 to 2014, including changes in demographics, drug use, substance abuse treatment, geographic indicators, and SEP use. Prevention Point Philadelphia's SEP registration data were analyzed using linear regression, Pearson's Chi square, and t-tests. Over time new SEP registrants have become younger, more racially diverse, and geographically more concentrated in specific areas of the city, corresponding to urban demographic shifts. The number of new registrants per year has decreased, however syringes exchanged have increased. Gentrification, cultural norms, and changes in risk perception are believed to have contributed to the changes in SEP registration. Demographic changes indicate outreach strategies for IDUs may need adjusting to address unique barriers for younger, more racially diverse users. Implications for SEPs are discussed, including policy and continued ability to address current public health threats.

South Philadelphia passive sampler and sensor study.

PubMed

Thoma, Eben D; Brantley, Halley L; Oliver, Karen D; Whitaker, Donald A; Mukerjee, Shaibal; Mitchell, Bill; Wu, Tai; Squier, Bill; Escobar, Elsy; Cousett, Tamira A; Gross-Davis, Carol Ann; Schmidt, Howard; Sosna, Dennis; Weiss, Hallie

2016-10-01

From June 2013 to March 2015, in total 41 passive sampler deployments of 2 wk duration each were conducted at 17 sites in South Philadelphia, PA, with results for benzene discussed here. Complementary time-resolved measurements with lower cost prototype fenceline sensors and an open-path ultraviolet differential optical absorption spectrometer were also conducted. Minimum passive sampler benzene concentrations for each sampling period ranged from 0.08 ppbv to 0.65 ppbv, with a mean of 0.25 ppbv, and were negatively correlated with ambient temperature (-0.01 ppbv/°C, R(2) = 0.68). Co-deployed duplicate passive sampler pairs (N = 609) demonstrated good precision with an average and maximum percent difference of 1.5% and 34%, respectively. A group of passive samplers located within 50 m of a refinery fenceline had a study mean benzene concentration of 1.22 ppbv, whereas a group of samplers located in communities >1 km distant from facilities had a mean of 0.29 ppbv. The difference in the means of these groups was statistically significant at the 95% confidence level (p < 0.001). A decreasing gradient in benzene concentrations moving away from the facilities was observed, as was a significant period-to-period variation. The highest recorded 2-wk average benzene concentration for the fenceline group was 3.11 ppbv. During this period, time-resolved data from the prototype sensors and the open-path spectrometer detected a benzene signal from the west on one day in particular, with the highest 5-min path-averaged benzene concentration measured at 24 ppbv. Using a variation of EPA's passive sampler refinery fenceline monitoring method, coupled with time-resolved measurements, a multiyear study in South Philadelphia informed benzene concentrations near facilities and in communities. The combination of measurement strategies can assist facilities in identification and mitigation of emissions from fugitive sources and improve information on air quality complex air sheds.

The Precarious Prokaryotic Chromosome

PubMed Central

2014-01-01

Evolutionary selection for optimal genome preservation, replication, and expression should yield similar chromosome organizations in any type of cells. And yet, the chromosome organization is surprisingly different between eukaryotes and prokaryotes. The nuclear versus cytoplasmic accommodation of genetic material accounts for the distinct eukaryotic and prokaryotic modes of genome evolution, but it falls short of explaining the differences in the chromosome organization. I propose that the two distinct ways to organize chromosomes are driven by the differences between the global-consecutive chromosome cycle of eukaryotes and the local-concurrent chromosome cycle of prokaryotes. Specifically, progressive chromosome segregation in prokaryotes demands a single duplicon per chromosome, while other “precarious” features of the prokaryotic chromosomes can be viewed as compensations for this severe restriction. PMID:24633873

Environmental Investigation and Risk Assessment. Phase 1 Report Tacony Warehouse, Philadelphia, Pennsylvania

DTIC Science & Technology

1993-08-24

Sayreville sand, the middle clay, the Old Bridge sand, and the upper clay. The Raritan is overlain in adjacent parts of New Jersey by the Magothy ...Formation, but the Magothy Formation has not been identified in the Philadelphia area. The sediments that overlie the Raritan are Pleistocene deposits...Qc,Pleistocene -.-- Unconjormity ... so Pensauken formation , Qp (Illinoian) Unconformitg . . . Magothy formation Kn 10 ... Uncontormity .... Upper

Secondhand Smoke Exposure and Smoke-free Policy in Philadelphia Public Housing.

PubMed

Klassen, Ann C; Lee, Nora L; Pankiewicz, Aaron; Ward, Rikki; Shuster, Michelle; Ogbenna, Bethany Townsend; Wade, Anita; Boamah, Maxwell; Osayameh, Olufunlayo; Rule, Ana M; Szymkowiak, Dorota; Coffman, Ryan; Bragg, Virginius; Mallya, Giridhar

2017-04-01

Multi-unit housing environments remain significant sources of secondhand smoke (SHS) exposure, especially for vulnerable populations in subsidized housing. In Philadelphia, the largest US housing authority to implement smoke-free policies, we measured baseline resident smoking-related behaviors and attitudes, and longitudinal exposures to airborne nicotine, during policy development and implementation. In 4 communities, we collected data in 2013, 2014, and 2016, before and after introduction of comprehensive smoke-free policies, interviewing persons in 172 households, and monitoring air-borne nicotine in non-smoking homes and public areas. Average nicotine level differences across years were estimated with multi-level models. Fifty-six percent of respondents smoked. Only 37% of households were smoke-free, with another 41% restricting smoking by area or time of day. The number of locations with detectable nicotine did not differ before and after policy implementation, with approximately 20% of non-smoking homes and 70%-80% of public areas having detectable nicotine. However, public area nicotine levels were lower in 2016, after policy implementation, than in 2013 and 2014 (-0.19 μg/m 3 , p = .03). Findings suggest that initial policy implementation was associated with reduced SHS exposure in Philadelphia. As HUD strengthens smoke-free policies, SHS monitoring can be useful to educate stakeholders and build support for policy enforcement.

Using Local History To Understand National Themes: The Yellow Fever Epidemic in Philadelphia in 1793.

ERIC Educational Resources Information Center

Westbury, Susan

2003-01-01

Provides background information for a local history project about the 1793 Philadelphia (Pennsylvania) yellow fever outbreak. Offers potential project topics to help students learn about local history and understand life in the eighteenth century United States. (CMK)

Uneven Playing Field: Demographic Differences and High School "Choice" in Philadelphia. Policy Brief

ERIC Educational Resources Information Center

Research for Action, 2010

2010-01-01

Every fall, eighth graders participate in the School District of Philadelphia's high school application and admissions process, vying for spots in a tiered system of public high schools across the city. This policy brief looks at disparities in the students who are successful in exercising school "choice" in the District's high school…

Turning It around: A Collective Effort to Understand and Resolve Philadelphia's Dropout Crisis

ERIC Educational Resources Information Center

Philadelphia Youth Network, 2006

2006-01-01

Today and every day, in neighborhoods and communities throughout Philadelphia, young people are making decisions that will change their lives forever. Some will decide to stay in school, graduate, and prepare themselves for college and careers. Others, who left school without a diploma, will summon the courage to seek out educational programs they…

Low frequency of c-MPL gene mutations in Iranian patients with Philadelphia-negative myeloproliferative disorders.

PubMed

Ghotaslou, A; Nadali, F; Chahardouli, B; Alizad Ghandforosh, N; Rostami, S H; Alimoghaddam, K; Ghavamzadeh, A

2015-01-01

Myeloproliferative disorders are a group of diseases characterized by increased proliferation of myeloid lineage. In addition to JAK2V617F mutation, several mutations in the c-MPL gene have been reported in patients with philadelphia-negative chronic myeloproliferative disorders that could be important in the pathogenesis of diseases. The aim of the present study was to investigate the frequency of c-MPL and JAK2V617F mutations in Iranian patients with Philadelphia-negativemyeloproliferative disorders. Peripheral blood samples were collected from 60 patients with Philadelphia-negative MPD) Subgroups ET and PMF) and 25 healthy subjects as control group. The mutation status of c-MPL and Jak2V617F were investigated by using Amplification-refractory mutation system (ARMS) and Allele-Specific PCR (AS-PCR), respectively. The results were confirmed by sequencing. Among 60 patients, 34 (56.6%) and 1(1.7%) had Jak2V617F and c-MPL mutation, respectively. Patients with Jak2V617F mutation had higher WBC counts and hemoglobin concentration than those without the mutation (p= 0.005, p=0.003). In addition, for all healthy subjects in control group, mutations were negative. The present study revealed that the c-MPL mutations unlike the Jak2V617F mutations are rare in Iranian patients with Ph-negative MPNs and the low mutation rate should be considered in the design of screening strategies of MPD patients.

Low frequency of c-MPL gene mutations in Iranian patients with Philadelphia-negative myeloproliferative disorders

PubMed Central

Ghotaslou, A; Nadali, F; Chahardouli, B; Alizad Ghandforosh, N; Rostami, SH; Alimoghaddam, K; Ghavamzadeh, A

2015-01-01

Background Myeloproliferative disorders are a group of diseases characterized by increased proliferation of myeloid lineage. In addition to JAK2V617F mutation, several mutations in the c-MPL gene have been reported in patients with philadelphia-negative chronic myeloproliferative disorders that could be important in the pathogenesis of diseases. The aim of the present study was to investigate the frequency of c-MPL and JAK2V617F mutations in Iranian patients with Philadelphia-negativemyeloproliferative disorders. Material and Methods Peripheral blood samples were collected from 60 patients with Philadelphia-negative MPD) Subgroups ET and PMF) and 25 healthy subjects as control group. The mutation status of c-MPL and Jak2V617F were investigated by using Amplification-refractory mutation system (ARMS) and Allele-Specific PCR (AS-PCR), respectively. The results were confirmed by sequencing. Results Among 60 patients, 34 (56.6%) and 1(1.7%) had Jak2V617F and c-MPL mutation, respectively. Patients with Jak2V617F mutation had higher WBC counts and hemoglobin concentration than those without the mutation (p= 0.005, p=0.003). In addition, for all healthy subjects in control group, mutations were negative. Conclusions The present study revealed that the c-MPL mutations unlike the Jak2V617F mutations are rare in Iranian patients with Ph-negative MPNs and the low mutation rate should be considered in the design of screening strategies of MPD patients. PMID:25914801

Herbarium specimens, photographs, and field observations show Philadelphia area plants are responding to climate change.

PubMed

Panchen, Zoe A; Primack, Richard B; Anisko, Tomasz; Lyons, Robert E

2012-04-01

The global climate is changing rapidly and is expected to continue changing in coming decades. Studying changes in plant flowering times during a historical period of warming temperatures gives us a way to examine the impacts of climate change and allows us to predict further changes in coming decades. The Greater Philadelphia region has a long and rich history of botanical study and documentation, with abundant herbarium specimens, field observations, and botanical photographs from the mid-1800s onward. These extensive records also provide an opportunity to validate methodologies employed by other climate change researchers at a different biogeographical area and with a different group of species. Data for 2539 flowering records from 1840 to 2010 were assessed to examine changes in flowering response over time and in relation to monthly minimum temperatures of 28 Piedmont species native to the Greater Philadelphia region. Regression analysis of the date of flowering with year or with temperature showed that, on average, the Greater Philadelphia species studied are flowering 16 d earlier over the 170-yr period and 2.7 d earlier per 1°C rise in monthly minimum temperature. Of the species studied, woody plants with short flowering duration are the best indicators of a warming climate. For monthly minimum temperatures, temperatures 1 or 2 mo prior to flowering are most significantly correlated with flowering time. Studies combining herbarium specimens, photographs, and field observations are an effective method for detecting the effects of climate change on flowering times.

The Recovery Act is "Lighting Up" the streets of Philadelphia

ScienceCinema

Nutter, Michael; Gajewski, Katherine; Russell, Toby; Williams, Doug; Best, DeLain

2018-02-13

The Philadelphia Streets Department is converting 58,000 yellow and green traffic signals and will replace approximately 27,000 red LED lights that have come to the end of their useful life. The project will use approximately $3 million in EECBG funds, matched with $3 million in PECO funding, and will save the city approximately $1 million in electric costs each year. For more information on Recovery Act projects funded by the Department of Energy in Pennsylvania: http://www.energy.gov/recovery/pa.htm

Successful treatment of an infant with constitutional chromosomal abnormality and hemangiopericytoma with chemotherapy alone.

PubMed

Gowans, L Kate; Bentz, Michael L; DeSantes, Kenneth B; Thompson, Kate J

2007-06-01

Hemangiopericytoma is a rare vascular tumor, of which 5% to 10% occur in the pediatric population. Although usually benign in infants, local recurrence, metastasis, and deaths have been reported. Clonal chromosomal rearrangements have been described, most involving the long arm of chromosome 12. We report a case of a 6-month-old boy with an hemangiopericytoma of the left forearm initially incorrectly diagnosed as hemangioma. He was treated successfully with chemotherapy alone using vincristine, doxorubicin, actinomycin-D, and cyclophosphamide. Although cytogenetic analysis was not performed on his biopsy, it was later discovered that a prenatal karyotype had shown 46,XY,inv(12)(q15q24.1).

Gentrification and Residential Mobility in Philadelphia

PubMed Central

Ding, Lei; Hwang, Jackelyn; Divringi, Eileen

2016-01-01

Gentrification has provoked considerable controversy surrounding its effects on residential displacement. Using a unique individual-level, longitudinal data set, this study examines mobility rates and residential destinations of residents in gentrifying neighborhoods during the recent housing boom and bust in Philadelphia for various strata of residents and different types of gentrification. We find that vulnerable residents, those with low credit scores and without mortgages, are generally no more likely to move from gentrifying neighborhoods compared with their counterparts in nongentrifying neighborhoods. When they do move, however, they are more likely to move to lower-income neighborhoods. Residents in gentrifying neighborhoods at the aggregate level have slightly higher mobility rates, but these rates are largely driven by more advantaged residents. These findings shed new light on the heterogeneity in mobility patterns across residents in gentrifying neighborhoods and suggest that researchers should focus more attention on the quality of residential moves and nonmoves for less advantaged residents, rather than mobility rates alone. PMID:28579662

Gentrification and Residential Mobility in Philadelphia.

PubMed

Ding, Lei; Hwang, Jackelyn; Divringi, Eileen

2016-11-01

Gentrification has provoked considerable controversy surrounding its effects on residential displacement. Using a unique individual-level, longitudinal data set, this study examines mobility rates and residential destinations of residents in gentrifying neighborhoods during the recent housing boom and bust in Philadelphia for various strata of residents and different types of gentrification. We find that vulnerable residents, those with low credit scores and without mortgages, are generally no more likely to move from gentrifying neighborhoods compared with their counterparts in nongentrifying neighborhoods. When they do move, however, they are more likely to move to lower-income neighborhoods. Residents in gentrifying neighborhoods at the aggregate level have slightly higher mobility rates, but these rates are largely driven by more advantaged residents. These findings shed new light on the heterogeneity in mobility patterns across residents in gentrifying neighborhoods and suggest that researchers should focus more attention on the quality of residential moves and nonmoves for less advantaged residents, rather than mobility rates alone.

78 FR 39601 - Safety Zone, Sugar House Casino Fireworks Display, Delaware River; Philadelphia, PA

Federal Register 2010, 2011, 2012, 2013, 2014

2013-07-02

...-AA00 Safety Zone, Sugar House Casino Fireworks Display, Delaware River; Philadelphia, PA AGENCY: Coast... the Delaware River. Sugar House Casino has contracted with Pyrotecnico Fireworks to arrange for this display. The Captain of the Port, Sector Delaware Bay, has determined that the Sugar House Casino...

What Next?: Educational Innovation and Philadelphia's School of the Future. Educational Innovations Series

ERIC Educational Resources Information Center

Cullinane, Mary, Ed.; Hess, Frederick M., Ed.

2010-01-01

"What Next?" offers a detailed study of the School of the Future's first three years (2006-2009) revealing what the School of the Future can teach us about high school redesign, public-private partnerships, and the use of technology in school reform. When the school district of Philadelphia teamed up with the Microsoft Corporation in…

Capital Program, School District of Philadelphia: July 1, 1968 to June 30, 1974.

ERIC Educational Resources Information Center

Philadelphia Board of Education, PA.

This report presents the School District of Philadelphia's long-range plan for school facilities and, based upon it, a capital program for the years 1969 through 1974. The plan for school facilities is preceded by a summary of present facility conditions and a consideration of indicated needs for expansion. General fiscal policies, a total program…

Chromosome 16 inversion-associated translocations in acute myeloid leukemia elucidated using a dual-color CBFB DNA probe.

PubMed

Aventín, Anna; Espadaler, Montserrat; Casas, Sílvia; Duarte, José; Nomdedéu, Josep; Sierra, Jorge

2002-04-15

We describe two cases of acute myelomonocytic leukemia with eosinophilia (AML-M4Eo) that were diagnosed with an inv(16)(p13q22) based on conventional cytogenetics (CC) and fluorescence in situ hybridization (FISH) technique using a chromosome 16p arm specific paint probe. Additional FISH analysis with a dual-color CBFB DNA probe showed that the 3' portion of the CBFB gene was translocated to chromosome 10p13 in the first patient and 1p36 in the other. These two cases indicate that some inv(16)(p13q22) identified by CC and FISH with chromosome arm-specific painting probe may represent cases of inversion-associated translocation. We suggest that all cases with inv(16)(p13q22) should be investigated by FISH with appropriate probes for a possible translocation of 16q22-->qter to another chromosome.

Repetitive telomeric sequences in chromosomal translocations involving chromosome 21

DOE Office of Scientific and Technical Information (OSTI.GOV)

Qu, J.; Dallaire, L.; Fetni, R.

Telomeres perform key functions in maintaining chromosome integrity. In some structural rearrangements the structure and polymorphism in human telomeres may play a significant role. However, of all the telomeric and subtelomeric sequences, only the terminal TTAGGG repeats are believed essential for telomere function. During the course of a study on the role of telomere structure and polymorphism in chromosomal rearrangements observed in families referred for prenatal diagnosis, we studied three cases in which chromosome 21 was involved. Repetitive TTAGGG sequences for all human chromosomes were used as probes (Oncor). Case 1, a de novo cryptic translocation (2;21) was initially identifiedmore » as monosomy 21 in a child with psychomotor delay and mild dysmorphism. Using a cosmid probe specific for region 21q22.3 and whole chromosome 21 specific painting probe, the long arm of 21 was found on the short arm of chromosome 2 with an interstitial telomere at the breakpoint junction. All the cells were monosomic for 21pter{yields}q21. Case 2 is a familial (19;21) translocation. GTG-banding and FISH with a satellite probe showed no apparent loss of material at the end of either 19q or 21q, with an interstitial telomere at the fusion site of the two intact chromosomes. In case 3, a four generation reciprocal (20;21) translocation, there was no interstitial telomere. The persistence of an interstitial telomere is a relatively rare event which can now be observed with in situ hybridization. Its study may lead to a better understanding of the dynamics of translocations and of chromosome imbalance.« less

40 CFR 81.15 - Metropolitan Philadelphia Interstate Air Quality Control Region (Pennsylvania-New Jersey-Delaware).

Code of Federal Regulations, 2010 CFR

2010-07-01

... Air Quality Control Region (Pennsylvania-New Jersey-Delaware). 81.15 Section 81.15 Protection of... Interstate Air Quality Control Region (Pennsylvania-New Jersey-Delaware). The Metropolitan Philadelphia Interstate Air Quality Control Region (Pennsylvania-New Jersey-Delaware) consists of the territorial area...

African American community leaders' policy recommendations for reducing racial disparities in HIV infection, treatment, and care: results from a community-based participatory research project in Philadelphia, Pennsylvania.

PubMed

Nunn, Amy; Sanders, Julia; Carson, Lee; Thomas, Gladys; Cornwall, Alexandra; Towey, Caitlin; Lee, Hwajin; Tasco, Marian; Shabazz-El, Waheedah; Yolken, Annajane; Smith, Tyrone; Bell, Gary; Feller, Sophie; Smith, Erin; James, George; Shelton Dunston, Brenda; Green, Derek

2015-01-01

African Americans account for 45% of new HIV infections in the United States. Little empirical research investigates African American community leaders' normative recommendations for addressing these disparities. Philadelphia's HIV infection rate is 5 times the national average, nearly 70% of new infections are among African Americans, and 2% of African Americans in Philadelphia are living with HIV/AIDS. Using a community-based participatory research approach, we convened focus groups among 52 African American community leaders from diverse backgrounds to solicit normative recommendations for reducing Philadelphia's racial disparities in HIV infection. Leaders recommended that (a) Philadelphia's city government should raise awareness about HIV/AIDS with media campaigns featuring local leaders, (b) local HIV-prevention interventions should address social and structural factors influencing HIV risks rather than focus exclusively on mode of HIV transmission, (c) resources should be distributed to the most heavily affected neighborhoods of Philadelphia, and (d) faith institutions should play a critical role in HIV testing, treatment, and prevention efforts. We developed a policy memo highlighting these normative recommendations for how to enhance local HIV prevention policy. This policy memo led to Philadelphia City Council hearings about HIV/AIDS in October 2010 and subsequently informed local HIV/AIDS prevention policy and development of local HIV prevention interventions. This community-based participatory research case study offers important lessons for effectively engaging community leaders in research to promote HIV/AIDS policy change. © 2014 Society for Public Health Education.

[Prevalence of congenital abnormalities identified in fetuses with 13, 18 and 21 chromosomal trisomy].

PubMed

Emer, Caroline Soares Cristofari; Duque, Julio Alejandro Peña; Müller, Ana Lúcia Letti; Gus, Rejane; Sanseverino, Maria Teresa Vieira; da Silva, André Anjos; Magalhães, José Antonio de Azevedo

2015-07-01

To describe the prevalence of malformations found in fetuses with trisomy of chromosomes 13, 18 and 21 by identifying the most frequent within each condition. A retrospective cross-sectional study with the analysis of trisomy cases of chromosomes 13, 18 and 21 diagnosed through fetal karyotype obtained by amniocentesis/cordocentesis, between October 1994 and May 2014, at a Teaching Hospital in Brazil Southern Region. Malformations identified through morphological ultrasonography were described and, subsequently, confirmed in newborn examinations and/or fetal autopsy. The results were analyzed using Fisher's test and analysis of variance (ANOVA), with a 5% level of significance (p=0.05). Sixty-nine cases of trisomy were diagnosed among 840 exams; nine were excluded due to outcome outside Hospital de Clínicas de Porto Alegre or incomplete records, remaining 60 cases (nine cases of chromosome 13 trisomy, 26 of chromosome 18, and 25 of chromosome 21). In all three groups, heart disease occurred in most cases; the ventricular septal defect was more prevalent and occurred in 66.7% of the trisomy 13 group. Gastrointestinal abnormalities were more prevalent in the trisomy 18 group, especially omphalocele (38.5%; p<0.01). Genitourinary anomalies were more significantly frequent in the trisomy 13 group (pyelectasis, 55.6% - p<0.01; ambiguous genitalia, 33.3% - p=0.01). Central nervous system defects were identified in all cases of trisomy 13. Facial cracks were significantly more prevalent among fetuses with trisomy 13 (66.7%; p<0.01). Hand and feet malformations significantly differed among the trisomy groups. Hand defects occurred in 50% of trisomy 18 cases, and in 44.4% of all trisomy 13 cases (p<0.01); congenital clubfoot was more common in the trisomy 18 group, being detected in 46.2% of fetuses (p<0.01). The abnormalities were found in 50.9, 27.3 and 21.7% of trisomy 18, 13 and 21 cases respectively. Many fetal malformations identified at ultrasound are suggestive of

BCR-ABL1 Compound Mutations Combining Key Kinase Domain Positions Confer Clinical Resistance to Ponatinib in Ph Chromosome-Positive Leukemia

PubMed Central

Zabriskie, Matthew S.; Eide, Christopher A.; Tantravahi, Srinivas K.; Vellore, Nadeem A.; Estrada, Johanna; Nicolini, Franck E.; Khoury, Hanna J.; Larson, Richard A.; Konopleva, Marina; Cortes, Jorge E.; Kantarjian, Hagop; Jabbour, Elias J.; Kornblau, Steven M.; Lipton, Jeffrey H.; Rea, Delphine; Stenke, Leif; Barbany, Gisela; Lange, Thoralf; Hernández-Boluda, Juan-Carlos; Ossenkoppele, Gert J.; Press, Richard D.; Chuah, Charles; Goldberg, Stuart L.; Wetzler, Meir; Mahon, Francois-Xavier; Etienne, Gabriel; Baccarani, Michele; Soverini, Simona; Rosti, Gianantonio; Rousselot, Philippe; Friedman, Ran; Deininger, Marie; Reynolds, Kimberly R.; Heaton, William L.; Eiring, Anna M.; Pomicter, Anthony D.; Khorashad, Jamshid S.; Kelley, Todd W.; Baron, Riccardo; Druker, Brian J.; Deininger, Michael W.; O'Hare, Thomas

2014-01-01

Summary Ponatinib is the only currently approved tyrosine kinase inhibitor (TKI) that suppresses all BCR-ABL1 single mutants in Philadelphia chromosome-positive (Ph+) leukemia, including the recalcitrant BCR-ABL1T315I mutant. However, emergence of compound mutations in a BCR-ABL1 allele may confer ponatinib resistance. We found that clinically reported BCR-ABL1 compound mutants center on 12 key positions and confer varying resistance to imatinib, nilotinib, dasatinib, ponatinib, rebastinib and bosutinib. T315I-inclusive compound mutants confer high-level resistance to TKIs, including ponatinib. In vitro resistance profiling was predictive of treatment outcomes in Ph+ leukemia patients. Structural explanations for compound mutation-based resistance were obtained through molecular dynamics simulations. Our findings demonstrate that BCR-ABL1 compound mutants confer different levels of TKI resistance, necessitating rational treatment selection to optimize clinical outcome. PMID:25132497

The X chromosome of monotremes shares a highly conserved region with the eutherian and marsupial X chromosomes despite the absence of X chromosome inactivation

DOE Office of Scientific and Technical Information (OSTI.GOV)

Watson, J.M.; Spencer, J.A.; Graves, J.A.M.

1990-09-01

Eight genes, located on the long arm of the human X chromosome and present on the marsupial X chromosome, were mapped by in situ hybridization to the chromosomes of the platypus Ornithorhynchus anatinus, one of the three species of monotreme mammals. All were located on the X chromosome. The authors conclude that the long arm of the human X chromosome represents a highly conserved region that formed part of the X chromosome in a mammalian ancestor at least 150 million years ago. Since three of these genes are located on the long arm of the platypus X chromosome, which ismore » G-band homologous to the Y chromosome and apparently exempt from X chromosome inactivation, the conservation of this region has evidently not depended on isolation by X-Y chromosome differentiation and X chromosome inactivation.« less

77 FR 3545 - Receipt of Noise Compatibility Program and Request for Review for Philadelphia International...

Federal Register 2010, 2011, 2012, 2013, 2014

2012-01-24

... DEPARTMENT OF TRANSPORTATION Federal Aviation Administration Receipt of Noise Compatibility... that it is reviewing a proposed noise compatibility program that was submitted for Philadelphia International Airport under the provisions of 49 U.S.C. 47504 (the Aviation Safety and Noise Abatement Act...

Chromosome aberration analysis in atomic bomb survivors and Thorotrast patients using two- and three-colour chromosome painting of chromosomal subsets.

PubMed

Tanaka, K; Popp, S; Fischer, C; Van Kaick, G; Kamada, N; Cremer, T; Cremer, C

1996-07-01

Chromosomal translocations in peripheral lymphocytes of three healthy Hiroshima atomic (A)-bomb survivors, as well as three Thorotrast patients and two non-irradiated age-matched control persons from the German Thorotrast study were studied by two- and three-colour fluorescence in situ hybridization (chromosome painting) with various combinations of whole chromosome composite probes, including chromosomes 1, 2, 3, 4, 6, 7, 8, 9 and 12. Translocation frequencies detected by chromosome painting in cells of the A-bomb survivors were compared with results obtained by G-banding. A direct comparison was made, i.e. only those cells with simple translocations or complex aberrations detected by G-banding were taken into consideration which in principle could be detected also with the respective painting combination. The statistical analysis revealed no significant differences from a 1:1 relationship between the frequencies of aberrant cells obtained by both methods. The use of genomic translocation frequencies estimated from subsets of chromosomes for biological dosimetry is discussed in the light of evidence that chromosomes occupy distinct territories and are variably arranged in human lymphocyte nuclei. This territorial organization of interphase chromosomes implies that translocations will be restricted to chromatin located at the periphery of adjacent chromosome territories.

Development and Simulation Testing of a Computerized Adaptive Version of the Philadelphia Naming Test

ERIC Educational Resources Information Center

Hula, William D.; Kellough, Stacey; Fergadiotis, Gerasimos

2015-01-01

Purpose: The purpose of this study was to develop a computerized adaptive test (CAT) version of the Philadelphia Naming Test (PNT; Roach, Schwartz, Martin, Grewal, & Brecher, 1996), to reduce test length while maximizing measurement precision. This article is a direct extension of a companion article (Fergadiotis, Kellough, & Hula, 2015),…

Principals' Hiring of Teachers in Philadelphia Schools: A Research Report on Improving Teacher Quality

ERIC Educational Resources Information Center

Ramirez, Heidi A.; Schofield, Lynne Steuerle; Black, Melissa

2009-01-01

The School District of Philadelphia (SDP), like many other urban school districts, struggles to increase its hiring and retention of experienced and highly qualified teachers in its low-performing/high-need schools. Toward the goal of improving teacher quality and the experience balance, particularly in hard-to-staff schools, the Philadelphia…

78 FR 36716 - Approval and Promulgation of Air Quality Implementation Plans; Pennsylvania; Philadelphia County...

Federal Register 2010, 2011, 2012, 2013, 2014

2013-06-19

... or otherwise protected through www.regulations.gov or email. The www.regulations.gov Web site is an.... Although listed in the index, some information is not publicly available, i.e., CBI or other information... Philadelphia County addressing the requirements of RACT under the 1997 8-hour ozone NAAQS. I. Background Ozone...

GATEWAY Demonstrations: Philadelphia International Airport Apron Lighting: LED System Performance in a Trial Installation

DOE Office of Scientific and Technical Information (OSTI.GOV)

Davis, Robert G.; Wilkerson, Andrea M.

This report documents a trial installation of LED apron lighting that replaced the existing high-pressure sodium luminaires at Philadelphia International Airport. Such high-mast applications remain challenging for LED technology, and the lessons learned from this project may help facility managers and LED product manufacturers better meet those challenges.

Improving Access to Eye Care among Persons at High-Risk of Glaucoma in Philadelphia--Design and Methodology: The Philadelphia Glaucoma Detection and Treatment Project.

PubMed

Hark, Lisa; Waisbourd, Michael; Myers, Jonathan S; Henderer, Jeffrey; Crews, John E; Saaddine, Jinan B; Molineaux, Jeanne; Johnson, Deiana; Sembhi, Harjeet; Stratford, Shayla; Suleiman, Ayman; Pizzi, Laura; Spaeth, George L; Katz, L Jay

2016-01-01

The Wills Eye Glaucoma Research Center initiated a 2-year demonstration project to develop and implement a community-based intervention to improve detection and management of glaucoma in Philadelphia. The glaucoma detection examination consisted of: ocular, medical, and family history; visual acuity testing; corneal pachymetry; biomicroscopy of the anterior segment; intraocular pressure (IOP) measurement; gonioscopy; funduscopy; automated visual field testing; and fundus-color photography. Treatment included laser surgery and/or IOP-lowering medication. A cost analysis was conducted to understand resource requirements. Outcome measures included; prevalence of glaucoma-related pathology and other eye diseases among high-risk populations; the impact of educational workshops on level of knowledge about glaucoma (assessed by pre- and post-test evaluation); and patient satisfaction of the glaucoma detection examinations in the community (assessed by satisfaction survey). Treatment outcome measures were change in IOP at 4-6 weeks and 4-6 months following selective laser trabeculoplasty treatment, deepening of the anterior chamber angle following laser-peripheral iridotomy treatment, and rate of adherence to recommended follow-up examinations. Cost outcomes included total program costs, cost per case of glaucoma detected, and cost per case of ocular disease detected. This project enrolled 1649 participants (African Americans aged 50+ years, adults 60+ years and individuals with a family history of glaucoma). A total of 1074 individuals attended a glaucoma educational workshop and 1508 scheduled glaucoma detection examination appointments in the community setting. The Philadelphia Glaucoma Detection and Treatment Project aimed to improve access and use of eye care and to provide a model for a targeted community-based glaucoma program.

Inheritance of pericentric inversion in chromosome 7 through the three progenies and a newborn with congenital hydronephrosis diagnosed prenatally by fetal urine sampling.

PubMed

Demirhan, Osman; Ozcan, Kenan; Taştemir, Deniz; Demir, Cansun; Tunç, Erdal; Solğun, Hüseyin A; Güzel, Ali Irfan

2008-01-01

To report the inheritance of a pericentric inversion in chromosome 7 through the three progenies, congenital hydronephrosis, and recurrent miscarriages in an extended family. Case report. Medical Faculty of Cukurova University in Turkey. Referred by obstetrics and gynecology clinic. Fetal urine and lymphocytic karyotype. Chromosomal analysis from fetal urine and peripheral blood lymphocytes were performed according to standard cytogenetic methods. We assessed an extended family in which a large pericentric inversion in chromosome 7 is segregating; one of the three progenies with the karyotype 46,XY,inv(7)(p22;q22) was heterozygote for the inversion and presented with congenital hydronephrosis. His mother, mother's brother, grandfather, grandfather's brother, and his daughter were similar for the inversion. This case describes the further molecular characterization of these breakpoints on the short or long arm of chromosome 7(p22-q22). The inv(7) is also associated with fetal wastage and may be playing a role in the etiology of the family's miscarriages. These findings can be used in clinical genetics and may be an effective tool for reproductive guidance and genetic counseling.

Secondhand Smoke Exposure and Smoke-free Policy in Philadelphia Public Housing

PubMed Central

Klassen, Ann C.; Lee, Nora L.; Pankiewicz, Aaron; Ward, Rikki; Shuster, Michelle; Ogbenna, Bethany Townsend; Wade, Anita; Boamah, Maxwell; Osayameh, Olufunlayo; Rule, Ana M.; Szymkowiak, Dorota; Coffman, Ryan; Bragg, Virginius; Mallya, Giridhar

2017-01-01

Objectives Multi-unit housing environments remain significant sources of secondhand smoke (SHS) exposure, especially for vulnerable populations in subsidized housing. In Philadelphia, the largest US housing authority to implement smoke-free policies, we measured baseline resident smoking-related behaviors and attitudes, and longitudinal exposures to airborne nicotine, during policy development and implementation. Methods In 4 communities, we collected data in 2013, 2014, and 2016, before and after introduction of comprehensive smoke-free policies, interviewing persons in 172 households, and monitoring air-borne nicotine in non-smoking homes and public areas. Average nicotine level differences across years were estimated with multi-level models. Results Fifty-six percent of respondents smoked. Only 37% of households were smoke-free, with another 41% restricting smoking by area or time of day. The number of locations with detectable nicotine did not differ before and after policy implementation, with approximately 20% of non-smoking homes and 70%–80% of public areas having detectable nicotine. However, public area nicotine levels were lower in 2016, after policy implementation, than in 2013 and 2014 (−0.19 μg/m3, p = .03). Conclusions Findings suggest that initial policy implementation was associated with reduced SHS exposure in Philadelphia. As HUD strengthens smoke-free policies, SHS monitoring can be useful to educate stakeholders and build support for policy enforcement. PMID:28944277

The development of pediatric critical care medicine at The Children's Hospital of Philadelphia: an interview with Dr. John J. 'Jack' Downes.

PubMed

Mai, Christine L; Schreiner, Mark S; Firth, Paul G; Yaster, Myron

2013-07-01

Dr. John J. 'Jack' Downes (1930-), the anesthesiologist-in-chief at The Children's Hospital of Philadelphia (1972-1996), has made numerous contributions to pediatric anesthesia and critical care medicine through a broad spectrum of research on chronic respiratory failure, status asthmaticus, postoperative risks of apnea in premature infants, and home-assisted mechanical ventilation. However, his defining moment was in January 1967, when The Children's Hospital of Philadelphia inaugurated its pediatric intensive care unit--the first of its kind in North America. During his tenure, he and his colleagues trained an entire generation of pediatric anesthesiologists and intensivists and set a standard of care and professionalism that continues to the present day. Based on an interview with Dr. Downes, this article reviews a career that advanced pediatric anesthesia and critical care medicine and describes the development of that first pediatric intensive care unit at The Children's Hospital of Philadelphia. © 2013 John Wiley & Sons Ltd.

Sex chromosome aneuploidies.

PubMed

Skuse, David; Printzlau, Frida; Wolstencroft, Jeanne

2018-01-01

Sex chromosome aneuploidies comprise a relatively common group of chromosome disorders characterized by the loss or gain of one or more sex chromosomes. We discuss five of the better-known sex aneuploidies: Turner syndrome (XO), Klinefelter syndrome (XXY), trisomy X (XXX), XYY, and XXYY. Despite their prevalence in the general population, these disorders are underdiagnosed and the specific genetic mechanisms underlying their phenotypes are poorly understood. Although there is considerable variation between them in terms of associated functional impairment, each disorder has a characteristic physical, cognitive, and neurologic profile. The most common cause of sex chromosome aneuploidies is nondisjunction, which can occur during meiosis or during the early stages of postzygotic development. The loss or gain of genetic material can affect all daughter cells or it may be partial, leading to tissue mosaicism. In both typical and atypical sex chromosome karyotypes, there is random inactivation of all but one X chromosome. The mechanisms by which a phenotype results from sex chromosome aneuploidies are twofold: dosage imbalance arising from a small number of genes that escape inactivation, and their endocrinologic consequences. Copyright © 2018 Elsevier B.V. All rights reserved.

Chromosomal instability in Streptomyces avermitilis: major deletion in the central region and stable circularized chromosome

PubMed Central

2010-01-01

Background The chromosome of Streptomyces has been shown to be unstable, frequently undergoing gross chromosomal rearrangements. However, the mechanisms underlying this phenomenon remain unclear, with previous studies focused on two chromosomal ends as targets for rearrangements. Here we investigated chromosomal instability of Streptomyces avermitilis, an important producer of avermectins, and characterized four gross chromosomal rearrangement events, including a major deletion in the central region. The present findings provide a valuable contribution to the mechanistic study of genetic instability in Streptomyces. Results Thirty randomly-selected "bald" mutants derived from the wild-type strain all contained gross chromosomal rearrangements of various types. One of the bald mutants, SA1-8, had the same linear chromosomal structure as the high avermectin-producing mutant 76-9. Chromosomes of both strains displayed at least three independent chromosomal rearrangements, including chromosomal arm replacement to form new 88-kb terminal inverted repeats (TIRs), and two major deletions. One of the deletions eliminated the 36-kb central region of the chromosome, but surprisingly did not affect viability of the cells. The other deletion (74-kb) was internal to the right chromosomal arm. The chromosome of another bald mutant, SA1-6, was circularized with deletions at both ends. No obvious homology was found in all fusion sequences. Generational stability analysis showed that the chromosomal structure of SA1-8 and SA1-6 was stable. Conclusions Various chromosomal rearrangements, including chromosomal arm replacement, interstitial deletions and chromosomal circularization, occurred in S. avermitilis by non-homologous recombination. The finding of an inner deletion involving in the central region of S. avermitilis chromosome suggests that the entire Streptomyces chromosome may be the target for rearrangements, which are not limited, as previously reported, to the two

Autosomal dominant familial spastic paraplegia: Tight linkage to chromosome 15q

DOE Office of Scientific and Technical Information (OSTI.GOV)

Fink, J.K.; Wu, C.T.B.; Jones, S.M.

1994-09-01

Familial spastic paraplegia (FSP) (MIM No.18260) constitutes a clinically and genetically diverse group of disorders that share the primary feature of progressive, severe, lower extremity spasticity. FSP is classified according to the mode of inheritance and whether progressive spasticity occurs in isolation ({open_quotes}uncomplicated FSP{close_quotes}) or with other neurologic abnormalities ({open_quotes}complicated FSP{close_quotes}), including optic neuropathy, retinopathy, extrapyramidal disturbance, dementia, ataxia, ichthyosis, mental retardation, or deafness. Recently, autosomal dominant, uncomplicated FSP was shown to be genetically heterogeneous and tightly linked to a group of microsatellite markers on chromosome 14q in one large kindred. We examined 126 members of a non-consanguineous North Americanmore » kindred of Irish descent. FSP was diagnosed in 31 living subjects who developed insidiously progressive gait disturbance between ages 12 and 35 years. Using genetic linkage analysis to microsatellite DNA polymorphisms, we showed that the FSP locus on chromosome 14q was exluded from linkage with the disorder in our family. Subsequently, we searched for genetic linkage between the disorder and microsatellite DNA polymorphisms spanning approximately 50% of the genome. We observed significantly positive, two-point maximum lod scores (Z) for markers on chromosome 15q: D15S128 (Z=9.70, {theta}=0.05), D15S165 (Z=3.30, {theta}=0.10), and UT511 (Z=3.86, {theta}=0.10). Our data clearly establishes that one locus for autosomal dominant, uncomplicated FSP is mapped to the pericentric region of chromosome 15q. Identifying genes responsible for chromosome 15q-linked and chromosome 14q-linked FSP will greatly advance our understanding of this condition and hopefully other inherited and degenerative brain and spinal cord disorders that are also characterized by axonal degeneration.« less

The Y chromosome of the Atelidae family (Platyrrhini): study by chromosome microdissection.

PubMed

Gifalli-Iughetti, C; Koiffmann, C P

2009-01-01

In order to study the intergeneric variability of the Y chromosome, we describe the hybridization of the Y chromosome of Brachytelesarachnoides, obtained by microdissection, to metaphases of Atelesbelzebuthmarginatus, Lagothrixlagothricha, and Alouatta male specimens. Brachytelesarachnoides (Atelinae) has 62 chromosomes and a very small Y chromosome. Our results showed that the Brachytelesarachnoides Y chromosome probe hybridized to Lagothrixlagothricha metaphases yielding one hybridization signal on only the tiny Y chromosome, and when hybridized with Atelesbelzebuthmarginatus metaphases it yielded one hybridization signal on two thirds of the small acrocentric Y chromosome. However, no hybridization signal was observed in Alouatta metaphases (subfamily Alouattinae), a closely related genus in the Atelidae family. Furthermore, our data support a close phylogenetic relationship among Brachyteles, Ateles, and Lagothrix and their placement in the Atelinae subfamily, but exclude Alouatta from this group indicating its placement as basal to this group. Copyright 2009 S. Karger AG, Basel.

A Case Study of the Philadelphia Sugar-Sweetened Beverage Tax Policymaking Process: Implications for Policy Development and Advocacy.

PubMed

Purtle, Jonathan; Langellier, Brent; Lê-Scherban, Félice

Policymakers are increasingly proposing sugar-sweetened beverage (SSB) taxes as an evidence-based strategy to reduce chronic disease risk; and local health departments (LHDs) are well-positioned to play a role in SSB policy development and advocacy. However, most SSB tax proposals fail to become law and limited empiric guidance exists to inform advocacy efforts. In June 2016, Philadelphia, Pennsylvania, passed an SSB tax. To identify features of the Philadelphia SSB tax policymaking process that contributed to the proposal's passage. Qualitative case study. Semistructured interviews were conducted with key informants closely involved with the policymaking process. Interviews were audio-recorded and transcribed. Local news media about the SSB tax proposal were analyzed to triangulate interview findings. Analysis was conducted in NVivo 10 using inductive qualitative content analysis. Philadelphia, Pennsylvania, during the SSB tax policymaking in process. Nine key informants (2 city councilpersons, 4 city agency officials, 1 community-based advocate, 1 news reporter, and 1 researcher). The Philadelphia SSB tax proposal was introduced with the explicit goal of financing universal prekindergarten and deliberately not framed as a health intervention. This framing shifted contentious debates about government involvement in individual behavior toward discussions about how to finance universal prekindergarten, a goal for which broad support existed. The LHD played an important role in communicating research evidence about potential health benefits of the SSB tax proposal at the end of the policymaking process. During local SSB tax policy development processes, LHD officials and other advocates should encourage policymakers to design SSB tax policies so that revenue is directed toward community investments for which broad public support exists. When communicating with policymakers and the public, LHDs should consider emphasizing how SSB tax revenue will be used in addition

75 FR 25010 - Self-Regulatory Organizations; Stock Clearing Corporation of Philadelphia; Notice of Filing and...

Federal Register 2010, 2011, 2012, 2013, 2014

2010-05-06

...-025, The NASDAQ Stock Market LLC (``NASDAQ Exchange'') sought and received Commission approval to... requirements apply to elections of directors and were not amended. Each share of common stock has one vote,\\8...-Regulatory Organizations; Stock Clearing Corporation of Philadelphia; Notice of Filing and Immediate...

Parents' "Hard" Knowledge of Admission Criteria and Acceptance in Philadelphia's High School Choice Process

ERIC Educational Resources Information Center

Haxton, Clarisse L.; Neild, Ruth Curran

2012-01-01

We examine parents' knowledge of discrete, verifiable facts--what we call "hard knowledge"--in a high school application process. Using parent survey data (n = 658) from the School District of Philadelphia, this study examines whether parents knew the admission criteria and acceptance rate at the high school they most wanted their child…

Getting a Feel for the Market: The Use of Privatized School Management in Philadelphia

ERIC Educational Resources Information Center

Byrnes, Vaughan

2009-01-01

This study evaluates the impact of the privatization of education services in the Philadelphia School District, using an interrupted time series design. The sample observes 88 middle-grades schools, beginning with the 1996-97 school year, and finds that, by 2006, four years postintervention, the achievement growth rate of schools run by…

Characteristics of English Language Learners in the School District of Philadelphia. PERC Research Brief

ERIC Educational Resources Information Center

Lin, Joshua; Hughes, Rosemary; Long, Daniel; Kim, Dae

2016-01-01

As a group, English Language Learners (ELLs) are diverse and come from a variety of home languages, cultures, educational backgrounds, and educational needs. This brief focuses on descriptive characteristics of the ELL students served by the School District of Philadelphia in 2014-2015. Specifically, this brief highlights the diversity of the ELL…

Micromechanics of human mitotic chromosomes

NASA Astrophysics Data System (ADS)

Sun, Mingxuan; Kawamura, Ryo; Marko, John F.

2011-02-01

Eukaryote cells dramatically reorganize their long chromosomal DNAs to facilitate their physical segregation during mitosis. The internal organization of folded mitotic chromosomes remains a basic mystery of cell biology; its understanding would likely shed light on how chromosomes are separated from one another as well as into chromosome structure between cell divisions. We report biophysical experiments on single mitotic chromosomes from human cells, where we combine micromanipulation, nano-Newton-scale force measurement and biochemical treatments to study chromosome connectivity and topology. Results are in accord with previous experiments on amphibian chromosomes and support the 'chromatin network' model of mitotic chromosome structure. Prospects for studies of chromosome-organizing proteins using siRNA expression knockdowns, as well as for differential studies of chromosomes with and without mutations associated with genetic diseases, are also discussed.

Ten-Year Secular Trends in Youth Violence: Results From the Philadelphia Youth Risk Behavior Survey 2003-2013.

PubMed

Pool, Andrew C; Patterson, Freda; Luna, Ingrid Y; Hohl, Bernadette; Bauer, Katherine W

2017-04-01

Youth violence reduction is a public health priority, yet few studies have examined secular trends in violence among urban youth, who may be particularly vulnerable to numerous forms of violence. This study examines 10-year secular trends in the prevalence of violence-related behaviors among Philadelphia high school students. Repeated cross-sectional data were analyzed from 5 waves of the Philadelphia Youth Risk Behavior Survey (YRBS) from 2003 to 2013. Sex-specific multivariate regression models were used to examine secular trends in multiple types of violence, accounting for age, race/ethnicity, and sampling strategy. In 2013, the most prevalent violent behavior was physical fighting among boys (38.4%) and girls (32.7%). Among girls, the prevalence of sexual assault and suicide attempts declined between 2003 and 2013 (β = -0.13, p = .04 and β = -0.14, p = .007, respectively). Among boys, significant declines in carrying a weapon (β = -0.31, p < .001), carrying a gun (β = -0.16, p = .01), and physical fighting (β = -0.35, p = .001) were observed. Whereas the prevalence of some forms of violence stabilized or declined among Philadelphia youth during 2003-2013 time span, involvement in violence-related behaviors remains common among this population. Continued surveillance and evidence-based violence reduction strategies are needed to address violence among urban youth. © 2017, American School Health Association.

Bird-like sex chromosomes of platypus imply recent origin of mammal sex chromosomes.

PubMed

Veyrunes, Frédéric; Waters, Paul D; Miethke, Pat; Rens, Willem; McMillan, Daniel; Alsop, Amber E; Grützner, Frank; Deakin, Janine E; Whittington, Camilla M; Schatzkamer, Kyriena; Kremitzki, Colin L; Graves, Tina; Ferguson-Smith, Malcolm A; Warren, Wes; Marshall Graves, Jennifer A

2008-06-01

In therian mammals (placentals and marsupials), sex is determined by an XX female: XY male system, in which a gene (SRY) on the Y affects male determination. There is no equivalent in other amniotes, although some taxa (notably birds and snakes) have differentiated sex chromosomes. Birds have a ZW female: ZZ male system with no homology with mammal sex chromosomes, in which dosage of a Z-borne gene (possibly DMRT1) affects male determination. As the most basal mammal group, the egg-laying monotremes are ideal for determining how the therian XY system evolved. The platypus has an extraordinary sex chromosome complex, in which five X and five Y chromosomes pair in a translocation chain of alternating X and Y chromosomes. We used physical mapping to identify genes on the pairing regions between adjacent X and Y chromosomes. Most significantly, comparative mapping shows that, contrary to earlier reports, there is no homology between the platypus and therian X chromosomes. Orthologs of genes in the conserved region of the human X (including SOX3, the gene from which SRY evolved) all map to platypus chromosome 6, which therefore represents the ancestral autosome from which the therian X and Y pair derived. Rather, the platypus X chromosomes have substantial homology with the bird Z chromosome (including DMRT1) and to segments syntenic with this region in the human genome. Thus, platypus sex chromosomes have strong homology with bird, but not to therian sex chromosomes, implying that the therian X and Y chromosomes (and the SRY gene) evolved from an autosomal pair after the divergence of monotremes only 166 million years ago. Therefore, the therian X and Y are more than 145 million years younger than previously thought.

Acute, fatal Sarcocystis calchasi-associated hepatitis in Roller pigeons (Columbia livia f. dom.) at Philadelphia Zoo

USDA-ARS?s Scientific Manuscript database

Four Roller pigeons (Columba livia f. dom.) at the Philadelphia Zoo died suddenly. Necropsy examination revealed macroscopic hepatitis. Microscopically, the predominant lesions were in liver, characterized with necrosis and mixed cell inflammatory response. Sarcocystis calchasi-like schizonts and fr...

Vibrio chromosomes share common history.

PubMed

Kirkup, Benjamin C; Chang, LeeAnn; Chang, Sarah; Gevers, Dirk; Polz, Martin F

2010-05-10

While most gamma proteobacteria have a single circular chromosome, Vibrionales have two circular chromosomes. Horizontal gene transfer is common among Vibrios, and in light of this genetic mobility, it is an open question to what extent the two chromosomes themselves share a common history since their formation. Single copy genes from each chromosome (142 genes from chromosome I and 42 genes from chromosome II) were identified from 19 sequenced Vibrionales genomes and their phylogenetic comparison suggests consistent phylogenies for each chromosome. Additionally, study of the gene organization and phylogeny of the respective origins of replication confirmed the shared history. Thus, while elements within the chromosomes may have experienced significant genetic mobility, the backbones share a common history. This allows conclusions based on multilocus sequence analysis (MLSA) for one chromosome to be applied equally to both chromosomes.

78 FR 3482 - Self-Regulatory Organizations; Stock Clearing Corporation of Philadelphia; Notice of Filing of...

Federal Register 2010, 2011, 2012, 2013, 2014

2013-01-16

... SECURITIES AND EXCHANGE COMMISSION [Release No. 34-68536; File No. SR-SCCP-2012-02] Self-Regulatory Organizations; Stock Clearing Corporation of Philadelphia; Notice of Filing of Proposed Rule Change With Respect to the Amendment of the By-Laws of Its Parent Corporation, The NASDAQ OMX Group, Inc...

Preliminary analysis of numerical chromosome abnormalities in reciprocal and Robertsonian translocation preimplantation genetic diagnosis cases with 24-chromosomal analysis with an aCGH/SNP microarray.

PubMed

Xie, Yanxin; Xu, Yanwen; Wang, Jing; Miao, Benyu; Zeng, Yanhong; Ding, Chenhui; Gao, Jun; Zhou, Canquan

2018-01-01

�years, the aneuploidy rates were 10.7% for rcp carriers, 26.3% for RT carriers, and 57.1% for the control group. The cumulative aneuploidy rates of chromosome translocation carriers were significantly lower than the control group. No ICE was observed in cleavage and blastocyst stage embryos obtained from these carriers. Additionally, the risk of chromosomal numerical abnormalities was observed in each of the 23 pairs of autosomes or sex chromosomes from day 3 and day 5 embryos. There was not enough evidence to prove that ICE was present in embryos derived from both rcp and RT translocation carriers, regardless of the maternal age. However, chromosomal numerical abnormalities were noticed in 23 pairs of autosomes and sex chromosomes in parental structurally normal chromosomes. Thus, 24-chromosomal analysis with an aCGH/SNP microarray PGD protocol is required to decrease the risks of failure to diagnose aneuploidy in structurally normal chromosomes.

Stable chromosome condensation revealed by chromosome conformation capture

PubMed Central

Eagen, Kyle P.; Hartl, Tom A.; Kornberg, Roger D.

2015-01-01

SUMMARY Chemical cross-linking and DNA sequencing have revealed regions of intra-chromosomal interaction, referred to as topologically associating domains (TADs), interspersed with regions of little or no interaction, in interphase nuclei. We find that TADs and the regions between them correspond with the bands and interbands of polytene chromosomes of Drosophila. We further establish the conservation of TADs between polytene and diploid cells of Drosophila. From direct measurements on light micrographs of polytene chromosomes, we then deduce the states of chromatin folding in the diploid cell nucleus. Two states of folding, fully extended fibers containing regulatory regions and promoters, and fibers condensed up to ten-fold containing coding regions of active genes, constitute the euchromatin of the nuclear interior. Chromatin fibers condensed up to 30-fold, containing coding regions of inactive genes, represent the heterochromatin of the nuclear periphery. A convergence of molecular analysis with direct observation thus reveals the architecture of interphase chromosomes. PMID:26544940

The use of molecular and cytogenetic methods as a valuable tool in the detection of chromosomal abnormalities in horses: a case of sex chromosome chimerism in a Spanish purebred colt.

PubMed

Demyda-Peyrás, S; Membrillo, A; Bugno-Poniewierska, M; Pawlina, K; Anaya, G; Moreno-Millán, M

2013-01-01

Chromosomal abnormalities associated to sex chromosomes are reported as a problem more common than believed to be in horses. Most of them remain undiagnosed due to the complexity of the horse karyotype and the lack of interest of breeders and veterinarians in this type of diagnosis. Approximately 10 years ago, the Spanish Purebred Breeders Association implemented a DNA paternity test to evaluate the pedigree of every newborn foal. All candidates who showed abnormal or uncertain results are routinely submitted to cytogenetical analysis to evaluate the presence of chromosomal abnormalities. We studied the case of a foal showing 3 and even 4 different alleles in several loci in the short tandem repeat (STR) -based DNA parentage test. To confirm these results, a filiation test was repeated using follicular hair DNA showing normal results. A complete set of conventional and molecular cytogenetic analysis was performed to determine their chromosomal complements. C-banding and FISH had shown that the foal presents a sex chimerism 64,XX/64,XY with a cellular percentage of approximately 70/30, diagnosed in blood samples. The use of a diagnostic approach combining routine parentage QF-PCR-based STR screening tested with classical or molecular cytogenetic analysis could be a powerful tool that allows early detection of foals that will have a poor or even no reproductive performance due to chromosomal abnormalities, saving time, efforts and breeders' resources. Copyright © 2013 S. Karger AG, Basel.

Public Education in Philadelphia: The Crucial Need for Civic Capacity in a Privatized Environment

ERIC Educational Resources Information Center

Blanc, Suzanne; Simon, Elaine

2007-01-01

Like many other U.S. cities, Philadelphia experienced a prolonged period of deindustrialization and job loss during the second half of the 20th century. As in other northern cities, the process of suburbanization went hand in hand with white flight, increased racial segregation of the city and its schools, and increasingly inadequate funding of…

You "Can" Get There from Here: 2009 and 2010 Philadelphia Youth Network Annual Report

ERIC Educational Resources Information Center

Philadelphia Youth Network, 2010

2010-01-01

This paper presents the annual report of Philadelphia Youth Network (PYN) for 2009-2010. This annual report documents the journeys of several participants in their programs who have gone on successfully to college and careers, and demonstrates the potential of young Philadelphians to begin to reach their goals. In telling these stories, they build…

Automated identification of abnormal metaphase chromosome cells for the detection of chronic myeloid leukemia using microscopic images

NASA Astrophysics Data System (ADS)

Wang, Xingwei; Zheng, Bin; Li, Shibo; Mulvihill, John J.; Chen, Xiaodong; Liu, Hong

2010-07-01

Karyotyping is an important process to classify chromosomes into standard classes and the results are routinely used by the clinicians to diagnose cancers and genetic diseases. However, visual karyotyping using microscopic images is time-consuming and tedious, which reduces the diagnostic efficiency and accuracy. Although many efforts have been made to develop computerized schemes for automated karyotyping, no schemes can get be performed without substantial human intervention. Instead of developing a method to classify all chromosome classes, we develop an automatic scheme to detect abnormal metaphase cells by identifying a specific class of chromosomes (class 22) and prescreen for suspicious chronic myeloid leukemia (CML). The scheme includes three steps: (1) iteratively segment randomly distributed individual chromosomes, (2) process segmented chromosomes and compute image features to identify the candidates, and (3) apply an adaptive matching template to identify chromosomes of class 22. An image data set of 451 metaphase cells extracted from bone marrow specimens of 30 positive and 30 negative cases for CML is selected to test the scheme's performance. The overall case-based classification accuracy is 93.3% (100% sensitivity and 86.7% specificity). The results demonstrate the feasibility of applying an automated scheme to detect or prescreen the suspicious cancer cases.

Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18

DOE Office of Scientific and Technical Information (OSTI.GOV)

Boghosian-Sell, L.; Mewar, R.; Harrison, W.

1994-09-01

In an effort to identify regions on chromosome 18 that may be critical in the appearance of the Edwards syndrome phenotype, the authors have analyzed six patients with partial duplication of chromosome 18. Four of the patients have duplications involving the distal half of 18q (18q21.1-qter) and are very mildly affected. The remaining two patients have most of 18q (18q12.1-qter) duplicated, are severely affected, and have been diagnosed with Edwards syndrome. The authors have employed FISH, using DNA probes from a chromosome 18-specific library, for the precise determination of the duplicated material in each of these patients. The clinical featuresmore » and the extent of the chromosomal duplication in these patients were compared with four previously reported partial trisomy 18 patients, to identify regions of chromosome 18 that may be responsible for certain clinical features of trisomy 18. The comparative analysis confirmed that there is no single region on 18q that is sufficient to produce the trisomy 18 phenotype and identified two regions on 18q that may work in conjunction to produce the Edwards syndrome phenotype. In addition, correlative analysis indicates that duplication of 18q12.3-q22.1 may be associated with more severe mental retardation in trisomy 18 individuals. 25 refs., 3 figs., 1 tab.« less

Historical ground-water-flow patterns and trends in iron concentrations in the Potomac--Raritan--Magothy aquifer system in parts of Philadelphia, Pennsylvania, and Camden and Gloucester Counties, New Jersey

USGS Publications Warehouse

Sloto, Ronald A.

2003-01-01

The Potomac-Raritan-Magothy (PRM) aquifer system is an important sole-source ground-water supply in Camden and Gloucester Counties, N.J. Elevated iron concentrations are a persistent water-quality problem associated with ground water from the PRM. In Philadelphia, the PRM no longer is usable as a water supply because of highly elevated concentrations of iron (as high as 429 mg/L [milligrams per liter]), manganese (as high as 4 mg/L), and sulfate (as high as 1,720 mg/L). A strongly reducing environment in the PRM in south Philadelphia causes these constituents to be remobilized by reductive dissolution of the aquifer matrix.By the 1920s, ground-water pumping changed the natural ground-water-flow patterns, and ground water flowed toward pumping centers in Philadelphia. By 1940, recharge areas changed from the topographically high areas east of Trenton, N.J., to the outcrop area of the PRM in Philadelphia, and the Delaware River became a source of recharge instead of a point of ground-water discharge. By 1954, the cone of depression caused by pumping at the former Philadelphia Naval Ship Yard (PNSY) exceeded 50 feet below NGVD 29, and the direction of ground-water flow was from New Jersey toward Philadelphia. Because of highly elevated concentrations of iron and manganese, pumping at the former PNSY ceased in the mid-1960s. Beginning about 1951, increased ground-water withdrawals from the PRM in New Jersey reversed the hydraulic gradient so that ground-water flow was from Philadelphia toward New Jersey under the Delaware River, making Philadelphia a recharge area for the PRM aquifer system in parts of Camden and Gloucester Counties. By 1988, water levels in the lower aquifer of the PRM in New Jersey had declined to 103 feet below NAVD 88.In 1943, dissolved iron concentrations ranged from 0.07 to 0.6 mg/L at the former PNSY. By 1967 when the wells at the PNSY were abandoned, dissolved iron concentrations had reached 46 mg/L. Dissolved iron concentrations in water from

Deciphering evolutionary strata on plant sex chromosomes and fungal mating-type chromosomes through compositional segmentation.

PubMed

Pandey, Ravi S; Azad, Rajeev K

2016-03-01

Sex chromosomes have evolved from a pair of homologous autosomes which differentiated into sex determination systems, such as XY or ZW system, as a consequence of successive recombination suppression between the gametologous chromosomes. Identifying the regions of recombination suppression, namely, the "evolutionary strata", is central to understanding the history and dynamics of sex chromosome evolution. Evolution of sex chromosomes as a consequence of serial recombination suppressions is well-studied for mammals and birds, but not for plants, although 48 dioecious plants have already been reported. Only two plants Silene latifolia and papaya have been studied until now for the presence of evolutionary strata on their X chromosomes, made possible by the sequencing of sex-linked genes on both the X and Y chromosomes, which is a requirement of all current methods that determine stratum structure based on the comparison of gametologous sex chromosomes. To circumvent this limitation and detect strata even if only the sequence of sex chromosome in the homogametic sex (i.e. X or Z chromosome) is available, we have developed an integrated segmentation and clustering method. In application to gene sequences on the papaya X chromosome and protein-coding sequences on the S. latifolia X chromosome, our method could decipher all known evolutionary strata, as reported by previous studies. Our method, after validating on known strata on the papaya and S. latifolia X chromosome, was applied to the chromosome 19 of Populus trichocarpa, an incipient sex chromosome, deciphering two, yet unknown, evolutionary strata. In addition, we applied this approach to the recently sequenced sex chromosome V of the brown alga Ectocarpus sp. that has a haploid sex determination system (UV system) recovering the sex determining and pseudoautosomal regions, and then to the mating-type chromosomes of an anther-smut fungus Microbotryum lychnidis-dioicae predicting five strata in the non

[A boy with Meier-Gorlin syndrome carrying a novel ORC6 mutation and uniparental disomy of chromosome 16].

PubMed

Li, Juan; Ding, Yu; Chang, Guoying; Cheng, Qing; Li, Xin; Wang, Jian; Wang, Xiumin; Shen, Yiping

2017-02-10

To identify the genetic cause for a 11-year-old Chinese boy with Meier-Gorlin syndrome (MGS). Chromosomal microarray analysis (CMA) was used to detect potential variations, while whole exome sequencing (WES) was used to identify sequence variants. Sanger sequencing was used to confirm the suspected variants. The boy has featured short stature, microtia, small patella, slender body build, craniofacial anomalies, and small testes with normal gonadotropin. A complete uniparental disomy of chromosome 16 was revealed by CMA. WES has identified a novel homozygous mutation c.67A>G (p.Lys23Glu) in ORC6 gene mapped to chromosome 16. As predicted by Alamut functional software, the mutation may affect the function of structural domain of the ORC6 protein. The patient is probably the first diagnosed MGS case in China, who carried a novel homozygous mutation of the ORC6 gene and uniparental disomy of chromosome 16. The effect of this novel mutation on the growth and development needs to be further investigated.

Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin.

PubMed

Zepeda-Mendoza, Cinthya J; Bardon, Alexandra; Kammin, Tammy; Harris, David J; Cox, Helen; Redin, Claire; Ordulu, Zehra; Talkowski, Michael E; Morton, Cynthia C

2018-03-01

Molecular characterization of balanced chromosomal abnormalities constitutes a powerful tool in understanding the pathogenic mechanisms of complex genetic disorders. Here we report a male with severe global developmental delay in the presence of a complex karyotype and normal microarray and exome studies. The subject, referred to as DGAP294, has two de novo apparently balanced translocations involving chromosomes 1 and 14, and chromosomes 4 and 10, disrupting several different transcripts of adhesion G protein-coupled receptor L2 (ADGRL2) and protocadherin 15 (PCDH15). In addition, a maternally inherited inversion disrupts peptidyl arginine deiminase types 3 and 4 (PADI3 and PADI4) on chromosome 1. None of these gene disruptions explain the patient's phenotype. Using genome regulatory annotations and chromosome conformation data, we predict a position effect ~370 kb upstream of a translocation breakpoint located at 14q12. The position effect involves forkhead box G1 (FOXG1), mutations in which are associated with the congenital form of Rett syndrome and FOXG1 syndrome. We believe the FOXG1 position effect largely accounts for the clinical phenotype in DGAP294, which can be classified as FOXG1 syndrome like. Our findings emphasize the significance of not only analyzing disrupted genes by chromosomal rearrangements, but also evaluating potential long-range position effects in clinical diagnoses.

Microdissection and chromosome painting of the alien chromosome in an addition line of wheat-Thinopyrum intermedium

USDA-ARS?s Scientific Manuscript database

The chromosome painting is an efficient tool for chromosome research. However, plant chromosome painting is relatively underdeveloped. In this study, chromosome painting was developed and used to identify alien chromosomes in TAi-27, a wheat-Thinopyrum intermedium addition line, and chromosomes of...

Chromosomal location and gene paucity of the male specific region on papaya Y chromosome.

PubMed

Yu, Qingyi; Hou, Shaobin; Hobza, Roman; Feltus, F Alex; Wang, Xiue; Jin, Weiwei; Skelton, Rachel L; Blas, Andrea; Lemke, Cornelia; Saw, Jimmy H; Moore, Paul H; Alam, Maqsudul; Jiang, Jiming; Paterson, Andrew H; Vyskot, Boris; Ming, Ray

2007-08-01

Sex chromosomes in flowering plants evolved recently and many of them remain homomorphic, including those in papaya. We investigated the chromosomal location of papaya's small male specific region of the hermaphrodite Y (Yh) chromosome (MSY) and its genomic features. We conducted chromosome fluorescence in situ hybridization mapping of Yh-specific bacterial artificial chromosomes (BACs) and placed the MSY near the centromere of the papaya Y chromosome. Then we sequenced five MSY BACs to examine the genomic features of this specialized region, which resulted in the largest collection of contiguous genomic DNA sequences of a Y chromosome in flowering plants. Extreme gene paucity was observed in the papaya MSY with no functional gene identified in 715 kb MSY sequences. A high density of retroelements and local sequence duplications were detected in the MSY that is suppressed for recombination. Location of the papaya MSY near the centromere might have provided recombination suppression and fostered paucity of genes in the male specific region of the Y chromosome. Our findings provide critical information for deciphering the sex chromosomes in papaya and reference information for comparative studies of other sex chromosomes in animals and plants.

Designing of plant artificial chromosome (PAC) by using the Chlorella smallest chromosome as a model system.

PubMed

Noutoshi, Y; Arai, R; Fujie, M; Yamada, T

1997-01-01

As a model for plant-type chromosomes, we have been characterizing molecular organization of the Chlorella vulgaris C-169 chromosome I. To identify chromosome structural elements including the centromeric region and replication origins, we constructed a chromosome I specific cosmid library and aligned each cosmid clones to generate contigs. So far, more than 80% of the entire chromosome I has been covered. A complete clonal physical reconstitution of chromosome I provides information on the structure and genomic organization of plant genome. We propose our strategy to construct an artificial chromosome by assembling the functional chromosome structural elements identified on Chrorella chromosome I.

Angelman syndrome due to paternal uniparental disomy of chromosome 15: A milder phenotype?

DOE Office of Scientific and Technical Information (OSTI.GOV)

Bottani, A.; Robinson, W.P.; DeLoizer-Blanchet, C.D.

1994-05-15

The Angelman syndrome (AS) is a neurological disorder characterized by severe mental retardation, absent speech, seizures, gait disturbances, and a typical age-dependent facial phenotype. Most cases are due to an interstitial deletion on the maternally inherited chromosome 15, in the critical region q11-q13. Rare cases also result from paternal uniparental disomy of chromosome 15. In a group of 14 patients with sporadic AS diagnosed in Switzerland, we found 2 unrelated females with paternal isodisomy for the entire chromosome 15. Their phenotypes were milder than usually seen in this syndrome: one girl did not show the typical AS facial changes; bothmore » patients had late-onset mild seizures; as they grow older, they had largely undisturbed gross motor functions, in particular no severe ataxia. Both girls were born to older fathers (45 and 43 years old, respectively). The apparent association of a relatively milder phenotype in AS with paternal uniparental disomy will have to be confirmed by detailed clinical descriptions of further patients. 25 refs., 2 figs., 1 tab.« less

A Multiplex Snapback Primer System for the Enrichment and Detection of JAK2 V617F and MPL W515L/K Mutations in Philadelphia-Negative Myeloproliferative Neoplasms

PubMed Central

Zhang, Yunqing; Zhang, Xinju; Xu, Xiao; Kang, Zhihua; Li, Shibao; Zhang, Chen; Su, Bing

2014-01-01

A multiplex snapback primer system was developed for the simultaneous detection of JAK2 V617F and MPL W515L/K mutations in Philadelphia chromosome- (Ph-) negative myeloproliferative neoplasms (MPNs). The multiplex system comprises two snapback versus limiting primer sets for JAK2 and MPL mutation enrichment and detection, respectively. Linear-After exponential (LATE) PCR strategy was employed for the primer design to maximize the amplification efficiency of the system. Low ionic strength buffer and rapid PCR protocol allowed for selective amplification of the mutant alleles. Amplification products were analyzed by melting curve analysis for mutation identification. The multiplex system archived 0.1% mutation load sensitivity and <5% coefficient of variation inter-/intra-assay reproducibility. 120 clinical samples were tested by the multiplex snapback primer assay, and verified with amplification refractory system (ARMS), quantitative PCR (qPCR) and Sanger sequencing method. The multiplex system, with a favored versatility, provided the molecular diagnosis of Ph-negative MPNs with a suitable implement and simplified the genetic test process. PMID:24729973

BCR-ABL1 compound mutations combining key kinase domain positions confer clinical resistance to ponatinib in Ph chromosome-positive leukemia.

PubMed

Zabriskie, Matthew S; Eide, Christopher A; Tantravahi, Srinivas K; Vellore, Nadeem A; Estrada, Johanna; Nicolini, Franck E; Khoury, Hanna J; Larson, Richard A; Konopleva, Marina; Cortes, Jorge E; Kantarjian, Hagop; Jabbour, Elias J; Kornblau, Steven M; Lipton, Jeffrey H; Rea, Delphine; Stenke, Leif; Barbany, Gisela; Lange, Thoralf; Hernández-Boluda, Juan-Carlos; Ossenkoppele, Gert J; Press, Richard D; Chuah, Charles; Goldberg, Stuart L; Wetzler, Meir; Mahon, Francois-Xavier; Etienne, Gabriel; Baccarani, Michele; Soverini, Simona; Rosti, Gianantonio; Rousselot, Philippe; Friedman, Ran; Deininger, Marie; Reynolds, Kimberly R; Heaton, William L; Eiring, Anna M; Pomicter, Anthony D; Khorashad, Jamshid S; Kelley, Todd W; Baron, Riccardo; Druker, Brian J; Deininger, Michael W; O'Hare, Thomas

2014-09-08

Ponatinib is the only currently approved tyrosine kinase inhibitor (TKI) that suppresses all BCR-ABL1 single mutants in Philadelphia chromosome-positive (Ph(+)) leukemia, including the recalcitrant BCR-ABL1(T315I) mutant. However, emergence of compound mutations in a BCR-ABL1 allele may confer ponatinib resistance. We found that clinically reported BCR-ABL1 compound mutants center on 12 key positions and confer varying resistance to imatinib, nilotinib, dasatinib, ponatinib, rebastinib, and bosutinib. T315I-inclusive compound mutants confer high-level resistance to TKIs, including ponatinib. In vitro resistance profiling was predictive of treatment outcomes in Ph(+) leukemia patients. Structural explanations for compound mutation-based resistance were obtained through molecular dynamics simulations. Our findings demonstrate that BCR-ABL1 compound mutants confer different levels of TKI resistance, necessitating rational treatment selection to optimize clinical outcome. Copyright © 2014 Elsevier Inc. All rights reserved.

Chromosome painting reveals specific patterns of chromosome occurrence in mitomycin C- and diethylstilboestrol-induced micronuclei.

PubMed

Fauth, E; Scherthan, H; Zankl, H

2000-11-01

Cultures of human blood lymphocytes from three subjects were incubated with the clastogen mitomycin C (MMC, 500 ng/ml) and the aneugen diethylstilboestrol (DES, 80 microM) 23 h before harvesting, to induce formation of micronuclei (MN) and numerical and structural alterations in metaphase chromosomes. We used fluorescence in situ hybridization (FISH) with painting probes for all human chromosomes to determine which chromosomes had contributed material to the induced MN. MMC treatment induced an approximately 18-fold increase in MN and led to a significant increase in hypodiploidy and structural chromosome aberrations in metaphase preparations. Undercondensation of pericentromeric heterochromatin of chromosomes 9 and 1 occurred in 20-75% of metaphases and FISH disclosed an abundance of material from these chromosomes in induced MN (62-69% from chromosome 9 and 7-12% from chromosome 1). DES treatment of lymphocytes induced a seven-fold increase in MN frequency and four-fold increase in the frequency of numerical aberrations; structural aberrations were not significantly increased. FISH analysis showed that material from all chromosomes was present in DES-induced MN, with material from chromosome 1 present in 16% of MN and material from each other chromosomes being present in 2-10% of MN. Material from chromosomes 14, 19 and 21 was significantly more frequent material from chromosome Y significantly less frequent in DES-treated cells than in controls. The findings of the MMC studies indicate that the heterochromatin block of chromosome 9 is a specific target for MMC-induced undercondensation, which induces a preferential occurrence of chromosome 9 material in MN. DES, in contrast, does not trigger heterochromatin decondensation and fails to induce such a significant appearance of material of particular chromosomes in MN.

Modeling Chromosomes

ERIC Educational Resources Information Center

Robertson, Carol

2016-01-01

Learning about chromosomes is standard fare in biology classrooms today. However, students may find it difficult to understand the relationships among the "genome", "chromosomes", "genes", a "gene locus", and "alleles". In the simple activity described in this article, which follows the 5E approach…

Capturing Chromosome Conformation

NASA Astrophysics Data System (ADS)

Dekker, Job; Rippe, Karsten; Dekker, Martijn; Kleckner, Nancy

2002-02-01

We describe an approach to detect the frequency of interaction between any two genomic loci. Generation of a matrix of interaction frequencies between sites on the same or different chromosomes reveals their relative spatial disposition and provides information about the physical properties of the chromatin fiber. This methodology can be applied to the spatial organization of entire genomes in organisms from bacteria to human. Using the yeast Saccharomyces cerevisiae, we could confirm known qualitative features of chromosome organization within the nucleus and dynamic changes in that organization during meiosis. We also analyzed yeast chromosome III at the G1 stage of the cell cycle. We found that chromatin is highly flexible throughout. Furthermore, functionally distinct AT- and GC-rich domains were found to exhibit different conformations, and a population-average 3D model of chromosome III could be determined. Chromosome III emerges as a contorted ring.

Diagnosis, prevention, and management of bleeding episodes in Philadelphia-negative myeloproliferative neoplasms: recommendations by the Hemostasis Working Party of the German Society of Hematology and Medical Oncology (DGHO) and the Society of Thrombosis and Hemostasis Research (GTH).

PubMed

Appelmann, Iris; Kreher, Stephan; Parmentier, Stefani; Wolf, Hans-Heinrich; Bisping, Guido; Kirschner, Martin; Bergmann, Frauke; Schilling, Kristina; Brümmendorf, Tim H; Petrides, Petro E; Tiede, Andreas; Matzdorff, Axel; Griesshammer, Martin; Riess, Hanno; Koschmieder, Steffen

2016-04-01

Philadelphia-negative myeloproliferative neoplasms (Ph-negative MPN) comprise a heterogeneous group of chronic hematologic malignancies. The quality of life, morbidity, and mortality of patients with MPN are primarily affected by disease-related symptoms, thromboembolic and hemorrhagic complications, and progression to myelofibrosis and acute leukemia. Major bleeding represents a common and important complication in MPN, and the incidence of such bleeding events will become even more relevant in the future due to the increasing disease prevalence and survival of MPN patients. This review discusses the causes, differential diagnoses, prevention, and management of bleeding episodes in patients with MPN, aiming at defining updated standards of care in these often challenging situations.

Structural maintenance of chromosome complexes differentially compact mitotic chromosomes according to genomic context

PubMed Central

Schalbetter, S. A.; Goloborodko, A.; Fudenberg, G.; Belton, J.-M.; Miles, C.; Yu, M.; Dekker, J.; Mirny, L.; Baxter, J.

2017-01-01

Structural Maintenance of Chromosomes (SMC) protein complexes are key determinants of chromosome conformation. Using Hi-C and polymer modeling, we study how cohesin and condensin, two deeply conserved SMC complexes, organize chromosomes in the budding yeast Saccharomyces cerevisiae. The canonical role of cohesin is to co-align sister chromatids whilst condensin generally compacts mitotic chromosomes. We find strikingly different roles for the two complexes in budding yeast mitosis. First, cohesin is responsible for compacting mitotic chromosome arms, independently of sister chromatid cohesion. Polymer simulations demonstrate this role can be fully accounted for through cis-looping of chromatin. Second, condensin is generally dispensable for compaction along chromosome arms. Instead it plays a targeted role compacting the rDNA proximal regions and promoting resolution of peri-centromeric regions. Our results argue that the conserved mechanism of SMC complexes is to form chromatin loops and that distinct SMC-dependent looping activities are selectively deployed to appropriately compact chromosomes. PMID:28825700

PinX1 is recruited to the mitotic chromosome periphery by Nucleolin and facilitates chromosome congression.

PubMed

Li, Na; Yuan, Kai; Yan, Feng; Huo, Yuda; Zhu, Tongge; Liu, Xing; Guo, Zhen; Yao, Xuebiao

2009-06-19

Mitotic chromosome movements are orchestrated by interactions between spindle microtubules and chromosomes. It is well known that kinetochore is the major site where microtubule-chromosome attachment occurs. However, the functions of other domains of chromosome such as chromosome periphery have remained elusive. Our previous studies show that PinX1 distributes to chromosome periphery and kinetochore during mitosis, and harbors the microtubule binding activity. Here we report that PinX1 interacts with Nucleolin, a chromosome periphery protein, through its C-termini. Deconvolution microscopic analyses show PinX1 mainly co-localizes with Nucleolin at chromosome periphery in prometaphase. Moreover, depletion of Nucleolin abolishes chromosome periphery localizations of PinX1, suggesting a functional interrelationship between PinX1 and Nucleolin. Importantly, repression of PinX1 and Nucleolin abrogates chromosome segregation in real-time mitosis, validating the functional importance of PinX1-Nucleolin interaction. We propose PinX1 is recruited to chromosome periphery by Nucleolin and a complex of PinX1 and Nucleolin is essential for faithful chromosome congression.

Chromosomal homologies among vampire bats revealed by chromosome painting (phyllostomidae, chiroptera).

PubMed

Sotero-Caio, C G; Pieczarka, J C; Nagamachi, C Y; Gomes, A J B; Lira, T C; O'Brien, P C M; Ferguson-Smith, M A; Souza, M J; Santos, N

2011-01-01

Substantial effort has been made to elucidate karyotypic evolution of phyllostomid bats, mostly through comparisons of G-banding patterns. However, due to the limited number of G-bands in respective karyotypes and to the similarity of non-homologous bands, an accurate evolutionary history of chromosome segments remains questionable. This is the case for vampire bats (Desmodontinae). Despite several proposed homologies, banding data have not yet provided a detailed understanding of the chromosomal changes within vampire genera. We examined karyotype differentiation of the 3 species within this subfamily using whole chromosomal probes from Phyllostomus hastatus (Phyllostominae) and Carollia brevicauda (Carolliinae). Painting probes of P. hastatus respectively detected 22, 21 and 23 conserved segments in Diphylla ecaudata, Diaemus youngi, and Desmodus rotundus karyotypes, whereas 27, 27 and 28 were respectively detectedwith C. brevicauda paints. Based on the evolutionary relationships proposed by morphological and molecular data, we present probable chromosomal synapomorphies for vampire bats and propose chromosomes that were present in the common ancestor of the 5 genera analyzed. Karyotype comparisons allowed us to relate a number of conserved chromosomal segments among the 5 species, providing a broader database for understanding karyotype evolution in the family. 2010 S. Karger AG, Basel.

Sex Chromosome Evolution in Amniotes: Applications for Bacterial Artificial Chromosome Libraries

PubMed Central

Janes, Daniel E.; Valenzuela, Nicole; Ezaz, Tariq; Amemiya, Chris; Edwards, Scott V.

2011-01-01

Variability among sex chromosome pairs in amniotes denotes a dynamic history. Since amniotes diverged from a common ancestor, their sex chromosome pairs and, more broadly, sex-determining mechanisms have changed reversibly and frequently. These changes have been studied and characterized through the use of many tools and experimental approaches but perhaps most effectively through applications for bacterial artificial chromosome (BAC) libraries. Individual BAC clones carry 100–200 kb of sequence from one individual of a target species that can be isolated by screening, mapped onto karyotypes, and sequenced. With these techniques, researchers have identified differences and similarities in sex chromosome content and organization across amniotes and have addressed hypotheses regarding the frequency and direction of past changes. Here, we review studies of sex chromosome evolution in amniotes and the ways in which the field of research has been affected by the advent of BAC libraries. PMID:20981143

Follow Through Pupil Achievement Characteristics in Philadelphia, 1971-1972 through 1975-1976. Report No. 77121.

ERIC Educational Resources Information Center

McKinney, John T.

This report provides achievement information from the Philadelphia, Pa. Follow Through program in Mathematics and Reading for the five years, 1971-1972 through 1975-1976. The data are drawn from cross-sectional analyses, focusing primarily on mean score performance in Total Mathematics and Total Reading on city-wide tests. The principal findings…

Emergency Preparedness for a Mass Gathering: the 2015 Papal Visit to Philadelphia.

PubMed

Paras, Emma; Butler, Matthew; Maguire, Brian F; Scarfone, Rich

2017-04-01

In September 2015, Pope Francis visited Philadelphia, Pennsylvania, and led outdoor events over the course of 2 days. As a result, The Children's Hospital of Philadelphia (CHOP) was faced with the challenge of planning for and responding to a mass gathering that was anticipated to be one of the largest in US history. As a result of unprecedented traffic restrictions, it was anticipated that patients, staff, and vendors would have severe challenges accessing the hospital, along with impaired communications from widespread cell phone service disruption. Previous mass gatherings have proven a need for early, detailed planning with multidisciplinary stakeholders, but little has been published on the impact of mass gatherings on area hospitals. This lack of data makes it difficult to predict the extent to which demand for hospital services would be increased and which services would be most affected. Early, coordinated planning allowed CHOP leaders to delegate responsibilities to those with specific expertise, prioritize needs, prevent duplication of efforts, and ensure engagement and accountability from key stakeholders. Emergency preparedness-led efforts including housing almost 1000 employees for 3 consecutive nights and assisting families with access allowed our hospital to maintain operations. The planning strategies shared here will provide emergency preparedness planners with a blueprint for future mass gathering preparedness. (Disaster Med Public Health Preparedness. 2017;11:267-276).

CD19/CD22 Chimeric Antigen Receptor T Cells and Chemotherapy in Treating Children or Young Adults With Recurrent or Refractory CD19 Positive B Acute Lymphoblastic Leukemia

ClinicalTrials.gov

2017-11-20

B Acute Lymphoblastic Leukemia; CD19 Positive; Minimal Residual Disease; Philadelphia Chromosome Positive; Recurrent Adult Acute Lymphoblastic Leukemia; Recurrent Childhood Acute Lymphoblastic Leukemia; Refractory Acute Lymphoblastic Leukemia

Y chromosome evolution: emerging insights into processes of Y chromosome degeneration

PubMed Central

Bachtrog, Doris

2014-01-01

The human Y chromosome is intriguing not only because it harbours the master-switch gene determining gender but also because of its unusual evolutionary trajectory. Previously an autosome, Y chromosome evolution has been characterized by massive gene decay. Recent whole-genome and transcriptome analyses of Y chromosomes in humans and other primates, in Drosophila species as well as in plants have shed light on the current gene content of the Y, its origins and its long-term fate. Comparative analysis of young and old Y chromosomes have given further insights into the evolutionary and molecular forces triggering Y degeneration and its evolutionary destiny. PMID:23329112

[Case of pediatric chronic myeloid leukemia with bilateral visual loss onset].

PubMed

Hara, Yusuke; Kamura, Yumi; Oikawa, Aki; Shichino, Hiroyuki; Mugishima, Hideo; Goto, Hiroshi

2010-05-01

Chronic myeloid leukemia (CML) during childhood is rare, and only been a few cases showed visual disturbances as an initial symptom. We report a pediatric CML case diagnosed by bilateral visual loss. An 11-year-old boy complained of visual loss in both eyes. His best corrected visual acuity was 0.5 in the right eye and 0.2 in the left. Fundus examination showed disc swelling, dilated and tortuous retinal veins and multiple elevated retinal lesions with hemorrhages of various size from one-forth to four disc diameters in both eyes. He was diagnosed as having CML by leucocytosis and systematic work-up including Philadelphia chromosome-positive, BCR-ABL kinase domain in peripheral blood and bone marrow. The ocular findings improved after treatment with hydroxyurea, leukocytaphresis and imatinib. His best corrected visual acuity improved to 0.7 in both eyes. Recent leukemia therapy including imatinib is effective not only for ocular lesions but also to induce hematological remission in childhood CML.

The X chromosome in space.

PubMed

Jégu, Teddy; Aeby, Eric; Lee, Jeannie T

2017-06-01

Extensive 3D folding is required to package a genome into the tiny nuclear space, and this packaging must be compatible with proper gene expression. Thus, in the well-hierarchized nucleus, chromosomes occupy discrete territories and adopt specific 3D organizational structures that facilitate interactions between regulatory elements for gene expression. The mammalian X chromosome exemplifies this structure-function relationship. Recent studies have shown that, upon X-chromosome inactivation, active and inactive X chromosomes localize to different subnuclear positions and adopt distinct chromosomal architectures that reflect their activity states. Here, we review the roles of long non-coding RNAs, chromosomal organizational structures and the subnuclear localization of chromosomes as they relate to X-linked gene expression.

Costs of a community-based glaucoma detection programme: analysis of the Philadelphia Glaucoma Detection and Treatment Project.

PubMed

Pizzi, Laura T; Waisbourd, Michael; Hark, Lisa; Sembhi, Harjeet; Lee, Paul; Crews, John E; Saaddine, Jinan B; Steele, Deon; Katz, L Jay

2018-02-01

Glaucoma is the foremost cause of irreversible blindness, and more than 50% of cases remain undiagnosed. Our objective was to report the costs of a glaucoma detection programme operationalised through Philadelphia community centres. The analysis was performed using a healthcare system perspective in 2013 US dollars. Costs of examination and educational workshops were captured. Measures were total programme costs, cost/case of glaucoma detected and cost/case of any ocular disease detected (including glaucoma). Diagnoses are reported at the individual level (therefore representing a diagnosis made in one or both eyes). Staff time was captured during site visits to 15 of 43 sites and included time to deliver examinations and workshops, supervision, training and travel. Staff time was converted to costs by applying wage and fringe benefit costs from the US Bureau of Labor Statistics. Non-staff costs (equipment and mileage) were collected using study logs. Participants with previously diagnosed glaucoma were excluded. 1649 participants were examined. Mean total per-participant examination time was 56 min (SD 4). Mean total examination cost/participant was $139. The cost/case of glaucoma newly identified (open-angle glaucoma, angle-closure glaucoma, glaucoma suspect, or primary angle closure) was $420 and cost/case for any ocular disease identified was $273. Glaucoma examinations delivered through this programme provided significant health benefit to hard-to-reach communities. On a per-person basis, examinations were fairly low cost, though opportunities exist to improve efficiency. Findings serve as an important benchmark for planning future community-based glaucoma examination programmes. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Educating English Language Learners: Instructional Approaches and Teacher Collaboration in Philadelphia Public Schools. PERC Research Brief

ERIC Educational Resources Information Center

Reumann-Moore, Rebecca; Rowland, Jeannette; Hughes, Rosemary; Lin, Joshua

2016-01-01

Districts, charter management organizations, and individual schools can learn a great deal from each other about strategies for creating robust and supportive learning environments for English Language Learners (ELLS). This brief highlights key findings about how Philadelphia public schools were crafting instructional approaches to serve their…

Improving Access to Eye Care among Persons at High-Risk of Glaucoma in Philadelphia — Design and Methodology: The Philadelphia Glaucoma Detection and Treatment Project

PubMed Central

Myers, Jonathan S.; Henderer, Jeffrey; Crews, John E.; Saaddine, Jinan B.; Molineaux, Jeanne; Johnson, Deiana; Sembhi, Harjeet; Stratford, Shayla; Suleiman, Ayman; Pizzi, Laura; Spaeth, George L.; Katz, L. Jay

2016-01-01

Purpose The Wills Eye Glaucoma Research Center initiated a 2-year demonstration project to develop and implement a community-based intervention to improve detection and management of glaucoma in Philadelphia. Methods The glaucoma detection examination consisted of: ocular, medical, and family history; visual acuity testing; corneal pachymetry; biomicroscopy of the anterior segment; intraocular pressure (IOP) measurement; gonioscopy; funduscopy; automated visual field testing; and fundus-color photography. Treatment included laser surgery and/or IOP-lowering medication. A cost analysis was conducted to understand resource requirements. Outcome measures included; prevalence of glaucoma-related pathology and other eye diseases among high-risk populations; the impact of educational workshops on level of knowledge about glaucoma (assessed by pre- and post-test evaluation); and patient satisfaction of the glaucoma detection examinations in the community (assessed by satisfaction survey). Treatment outcome measures were change in IOP at 4–6 weeks and 4–6 months following selective laser trabeculoplasty treatment, deepening of the anterior chamber angle following laser-peripheral iridotomy treatment, and rate of adherence to recommended follow-up examinations. Cost outcomes included total program costs, cost per case of glaucoma detected, and cost per case of ocular disease detected. Results This project enrolled 1649 participants (African Americans aged 50+ years, adults 60+ years and individuals with a family history of glaucoma). A total of 1074 individuals attended a glaucoma educational workshop and 1508 scheduled glaucoma detection examination appointments in the community setting. Conclusions The Philadelphia Glaucoma Detection and Treatment Project aimed to improve access and use of eye care and to provide a model for a targeted community-based glaucoma program. PMID:26950056

Relationship Between Total and Bioaccessible Lead on Children’s Blood Lead Levels in Urban Residential Philadelphia Soils

EPA Science Inventory

Relationships between total soil or bioaccessible lead (Pb), measured using an in vitro bioaccessibility assay, and children’s blood lead levels (BLL) were investigated in an urban neighborhood in Philadelphia, Pennsylvania, USA, with a history of soil Pb contamination....

Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy

PubMed Central

Boyd, Patricia Anne; Loane, Maria; Garne, Ester; Khoshnood, Babak; Dolk, Helen

2011-01-01

This study aims to assess prevalence and pregnancy outcome for sex chromosome trisomies (SCTs) diagnosed prenatally or in the first year of life. Data held by the European Surveillance of Congenital Anomalies (EUROCAT) database on SCT cases delivered 2000–2005 from 19 population-based registries in 11 European countries covering 2.5 million births were analysed. Cases included were livebirths diagnosed to 1 year of age, fetal deaths from 20 weeks gestation and terminations of pregnancy for fetal anomaly (TOPFA). In all, 465 cases of SCT were diagnosed between 2000 and 2005, a prevalence of 1.88 per 10,000 births (95% CI 1.71–2.06). Prevalence of XXX, XXY and XYY were 0.54 (95% CI 0.46–0.64), 1.04 (95% CI 0.92–1.17) and 0.30 (95% CI 0.24–0.38), respectively. In all, 415 (89%) were prenatally diagnosed and 151 (36%) of these resulted in TOPFA. There was wide country variation in prevalence (0.19–5.36 per 1000), proportion prenatally diagnosed (50–100%) and proportion of prenatally diagnosed resulting in TOPFA (13–67%). Prevalence of prenatally diagnosed cases was higher in countries with high prenatal detection rates of Down syndrome. The EUROCAT prevalence rate for SCTs diagnosed prenatally or up to 1 year of age represents 12% of the prevalence expected from cytogenetic studies of newborn babies, as the majority of cases are never diagnosed or are diagnosed later in life. There is a wide variation between European countries in prevalence, prenatal detection and TOPFA proportions, related to differences in screening policies as well as organizational and cultural factors. PMID:20736977

Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy.

PubMed

Boyd, Patricia Anne; Loane, Maria; Garne, Ester; Khoshnood, Babak; Dolk, Helen

2011-02-01

This study aims to assess prevalence and pregnancy outcome for sex chromosome trisomies (SCTs) diagnosed prenatally or in the first year of life. Data held by the European Surveillance of Congenital Anomalies (EUROCAT) database on SCT cases delivered 2000-2005 from 19 population-based registries in 11 European countries covering 2.5 million births were analysed. Cases included were livebirths diagnosed to 1 year of age, fetal deaths from 20 weeks gestation and terminations of pregnancy for fetal anomaly (TOPFA). In all, 465 cases of SCT were diagnosed between 2000 and 2005, a prevalence of 1.88 per 10,000 births (95% CI 1.71-2.06). Prevalence of XXX, XXY and XYY were 0.54 (95% CI 0.46-0.64), 1.04 (95% CI 0.92-1.17) and 0.30 (95% CI 0.24-0.38), respectively. In all, 415 (89%) were prenatally diagnosed and 151 (36%) of these resulted in TOPFA. There was wide country variation in prevalence (0.19-5.36 per 1000), proportion prenatally diagnosed (50-100%) and proportion of prenatally diagnosed resulting in TOPFA (13-67%). Prevalence of prenatally diagnosed cases was higher in countries with high prenatal detection rates of Down syndrome. The EUROCAT prevalence rate for SCTs diagnosed prenatally or up to 1 year of age represents 12% of the prevalence expected from cytogenetic studies of newborn babies, as the majority of cases are never diagnosed or are diagnosed later in life. There is a wide variation between European countries in prevalence, prenatal detection and TOPFA proportions, related to differences in screening policies as well as organizational and cultural factors.

Studies on metatherian sex chromosomes. IX. Sex chromosomes of the greater glider (Marsupialia: Petauridae).

PubMed

Murray, J D; McKay, G M; Sharman, G B

1979-06-01

The greater glider, currently but incorrectly known as Schoinobates volans, is widely distributed in forested regions in eastern Australia. All animals studied from six different localities had 20 autosomes but there were four chromosomally distinct populations. At Royal National Park, N.S.W., all female greater gliders studied had 22 chromosomes including two large submetacentric X chromosomes with subterminal secondary constrictions in their longer arms. This form of X chromosome occurred also at Bondo State Forest, Myall Lakes and Coff's Harbour, N.S.W., and at Eidsvold, Qld. At Coomooboolaroo, Qld, the X chromosome was also a large submetacentric but a secondary constriction occurred in the shorter arm. Two chromosomally distinct types apparently occur in Royal National Park, one with XY males as in all other populations, and one with XY1Y2 males. Y or Y1, but not Y2, chromosomes were eliminated from the bone marrow in all populations but were present in spermatogonia, primary spermatocytes and cultured fibroblasts. Animals from Bondo State Forest had three or more acrocentric or metacentric supernumerary chromosomes.

S1312, Inotuzumab Ozogamicin and Combination Chemotherapy in Treating Patients With Relapsed or Refractory Acute Leukemia

ClinicalTrials.gov

2018-04-09

Acute Leukemias of Ambiguous Lineage; B-cell Adult Acute Lymphoblastic Leukemia; Philadelphia Chromosome Positive Adult Precursor Acute Lymphoblastic Leukemia; Recurrent Adult Acute Lymphoblastic Leukemia; Recurrent Adult Burkitt Lymphoma

Learning From Philadelphia: Topographies of HIV/AIDS Media Assemblages.

PubMed

Cartwright, Lisa

2016-01-01

For this contribution to the special issue on "Mapping Queer Bioethics," the author employs an array of public health and popular media texts (especially Jonathan Demme's film Philadelphia) to challenge the construction and reconstruction of HIV-positive bodies as sites of bioethical concern. In outlining notions of "digital restoration," the author argues that there has been of late a remapping of the first decade of the HIV/AIDS pandemic through media projects assembled from archived materials. Accordingly, the author suggests that in the first decades of the 2000s, we have witnessed a media-archaeological turn, whereby old materials have been reassembled for commemorative purposes that oftentimes perform a reshaping of the topography of the first decade of the AIDS pandemic.

B-chromosome systems in the greater glider (Petauroides volans volans) (Marsupialia:Petauridae). I. B-chromosome distribution.

PubMed

McQuade, L R

1985-01-01

Variations in diploid chromosome number, due to the presence of B chromosomes, are found within the distribution of P. v. volans. B chromosomes vary in number between one and eight per animal, are mitotically stable in various body tissues and, unlike the Y chromosome in male P. v. volans, are not eliminated from bone marrow cells. Animals possessing B chromosomes have a distinct distribution, and it appears that a stable equilibrium between the forces of B chromosome accumulation or elimination is operating in those populations possessing these chromosomes.

[Clinical significance of JAK2、CALR and MPL gene mutations in 1 648 Philadelphia chromosome negative myeloproliferative neoplasms patients from a single center].

PubMed

Li, M Y; Chao, H Y; Sun, A N; Qiu, H Y; Jin, Z M; Tang, X W; Han, Y; Fu, C C; Chen, S N; Wu, D P

2017-04-14

Objective: To explore the prevalences of JAK2, CALR and MPL gene mutations and the mutation types in patients with Philadelphia chromosome negative myeloproliferative neoplasms (MPNs) , and to compare their clinical characteristics of different mutation types with each other and mutation negative group. Methods: The mutations of JAK2 V617F, JAK2 gene at exon 12, CALR gene at exon 9 and MPL gene at exon 10 in 1 648 Ph negative MPNs patients were detected by direct sequencing. Results: ① The JAK2V617F mutation was found in 471 (92.7%) of 508 PV patients, 819 (78.1%) of 1 049 ET patients and 74 (81.3%) of 91 PMF patients respectively, with the total mutation rate as 82.8% (1 364/1 648) . The JAK2 exon12 mutation was found in 9 (1.7%) of 508 PV patients, none was found in ET or PMF patients, with the total mutation rate as 0.5% (9/1 648) . The CALR mutation was found in 132 (12.6%) of 1 049 ET patients and 11 (12.1%) of 91 PMF patients respectively, with the total mutation rate as 8.7% (143/1 648) ; the MPL mutation was found in 9 (0.9%) of 1 049 ET patients and 1 (1.1%) of 91 PMF patients respectively, with the total mutation rate as 0.6% (10/1 648) . The co-occurrence of any two types of driver gene mutations was not detected by direct sequencing. ②The median onset age of patients with JAK2V617F[61 (15-95) y] was significant higher than of with JAK2 exon12 mutation[49 (33-62) y] or without mutations[42 (3-78) y] ( P <0.001) , but not for patients with CALR[57 (17-89) y] or MPL mutation[59 (22-71) y] ( P >0.05) . Patients with JAK2V617F had higher white blood cell count and hemoglobin level ( P <0.05) when compared with patients with CALR mutation or without mutations, or only significantly higher white blood cell count when compared with patients with MPL mutation ( P =0.013) . The platelet count of patients with CALR mutation was significantly higher than of with JAK2V617F[966 (400-2 069) ×10(9)/L vs 800 (198-3 730) ×10(9)/L, P <0.001]. ③Karyotype analysis

Characteristics of Black Men Who Have Sex With Men in Baltimore, Philadelphia, and Washington, D.C.: Geographic Diversity in Socio-Demographics and HIV Transmission Risk.

PubMed

German, Danielle; Brady, Kathleen; Kuo, Irene; Opoku, Jenevieve; Flynn, Colin; Patrick, Rudy; Park, Ju Nyeong; Adams, Joella; Carroll, Makeda; Simmons, Ron; Smith, Carlton R; Davis, Wendy W

2017-07-01

Baltimore, Philadelphia, and Washington, DC are geographically proximate cities with high HIV prevalence, including among black men who have sex with men (BMSM). Using data collected among BMSM in CDC's National HIV Behavioral Surveillance project, we compared socio-demographic characteristics, HIV risk behaviors, and service utilization to explore similarities and differences that could inform local and regional HIV intervention approaches. BMSM were recruited through venue time location sampling, June-December, 2011. Participants completed identical socio-behavioral surveys and voluntary HIV testing. Analyses were conducted among the full sample and those aged 18-24. Participants included 159 (DC), 364 (Baltimore), and 331 (Philadelphia) eligible BMSM. HIV prevalence was 23.1% (DC), 48.0% (Baltimore), 14.6% (Philadelphia) with 30.6%, 69.0%, 33.3% unrecognized HIV infection, respectively. Among BMSM 18-24, HIV prevalence was 11.1% (DC), 38.9% (Baltimore), 9.6% (Philadelphia) with unrecognized HIV infection 0.0%, 73.8%, 60.0% respectively. Compared with the other 2 cities, Baltimore participants were less likely to identify as gay/homosexual; more likely to report unemployment, incarceration, homelessness, sex exchange; and least likely to use the internet for partners. DC participants were more likely to have a college degree and employment. Philadelphia participants were more likely to report gay/homosexual identity, receptive condomless anal sex, having only main partners, and bars/clubs as partner meeting places. Sexually transmitted disease testing was universally low. Analyses showed especially high HIV prevalence among BMSM in Baltimore including among young BMSM. Socio-demographic characteristics and HIV infection correlates differed across cities but unrecognized HIV infection and unknown partner status were universally high.

Children Achieving: Philadelphia's Education Reform. A Second-Year Evaluation. Executive Summary. Progress Report Series 1996-97.

ERIC Educational Resources Information Center

Consortium for Policy Research in Education, Philadelphia, PA.

The 1996-97 school year was the second year of the Children Achieving reform initiative in Philadelphia (Pennsylvania). This summary describes findings from this second-year evaluation. The evaluation team conducted interviews and observations in 21 schools and 14 clusters, interviewing education reform leaders in the school district and…

Chromosomal evolution among leaf-nosed nectarivorous bats--evidence from cross-species chromosome painting (Phyllostomidae, Chiroptera).

PubMed

Sotero-Caio, Cibele G; Volleth, Marianne; Gollahon, Lauren S; Fu, Beiyuan; Cheng, William; Ng, Bee L; Yang, Fengtang; Baker, Robert J

2013-12-26

New World leaf-nosed bats, Phyllostomidae, represent a lineage of Chiroptera marked by unprecedented morphological/ecological diversity and extensive intergeneric chromosomal reorganization. There are still disagreements regarding their systematic relationships due to morphological convergence among some groups. Their history of karyotypic evolution also remains to be documented. To better understand the evolutionary relationships within Phyllostomidae, we developed chromosome paints from the bat species Macrotus californicus. We tested the potential of these paints as phylogenetic tools by looking for chromosomal signatures in two lineages of nectarivorous phyllostomids whose independent origins have been statistically supported by molecular phylogenies. By examining the chromosomal homologies defined by chromosome painting among two representatives of the subfamily Glossophaginae (Glossophaga soricina and Anoura cultrata) and one species from the subfamily Lonchophyllinae (Lonchophylla concava), we found chromosomal correspondence in regions not previously detected by other comparative cytogenetic techniques. We proposed the corresponding human chromosomal segments for chromosomes of the investigated species and found two syntenic associations shared by G. soricina and A. cultrata. Comparative painting with whole chromosome-specific paints of M. californicus demonstrates an extensive chromosomal reorganization within the two lineages of nectarivorous phyllostomids, with a large number of chromosomes shared between M. californicus and G. soricina. We show that the evolution of nectar-feeding bats occurs mainly by reshuffling of chiropteran Evolutionarily Conserved Units (ECUs). Robertsonian fusions/fissions and inversions seem to be important modifiers of phyllostomid karyotypes, and autapomorphic character states are common within species. Macrotus californicus chromosome paints will be a valuable tool for documenting the pattern of karyotypic evolution within

Conservation of chromosomes syntenic with avian autosomes in squamate reptiles revealed by comparative chromosome painting.

PubMed

Pokorná, Martina; Giovannotti, Massimo; Kratochvíl, Lukáš; Caputo, Vincenzo; Olmo, Ettore; Ferguson-Smith, Malcolm A; Rens, Willem

2012-08-01

In contrast to mammals, birds exhibit a slow rate of chromosomal evolution. It is not clear whether high chromosome conservation is an evolutionary novelty of birds or was inherited from an earlier avian ancestor. The evolutionary conservatism of macrochromosomes between birds and turtles supports the latter possibility; however, the rate of chromosomal evolution is largely unknown in other sauropsids. In squamates, we previously reported strong conservatism of the chromosomes syntenic with the avian Z, which could reflect a peculiarity of this part of the genome. The chromosome 1 of iguanians and snakes is largely syntenic with chromosomes 3, 5 and 7 of the avian ancestral karyotype. In this project, we used comparative chromosome painting to determine how widely this synteny is conserved across nine families covering most of the main lineages of Squamata. The results suggest that the association of the avian ancestral chromosomes 3, 5 and 7 can be dated back to at least the early Jurassic and could be an ancestral characteristic for Unidentata (Serpentes, Iguania, Anguimorpha, Laterata and Scinciformata). In Squamata chromosome conservatism therefore also holds for the parts of the genome which are homologous to bird autosomes, and following on from this, a slow rate of chromosomal evolution could be a common characteristic of all sauropsids. The large evolutionary stasis in chromosome organization in birds therefore seems to be inherited from their ancestors, and it is particularly striking in comparison with mammals, probably the only major tetrapod lineage with an increased rate of chromosomal rearrangements as a whole.

78 FR 40399 - Safety Zone; Fifth Coast Guard District Fireworks Displays, Delaware River; Philadelphia, PA.

Federal Register 2010, 2011, 2012, 2013, 2014

2013-07-05

... Philadelphia, Pennsylvania. The fireworks display is normally held on July 4th, but this year it will be held... America sponsors an annual fireworks display held on July 4th over the waters of Delaware River... annually on July 4th. However, this year, the fireworks event will be held on July 6, 2013. A fleet of...

Segmental folding of chromosomes: A basis for structural and regulatory chromosomal neighborhoods?

PubMed Central

Nora, Elphège P; Dekker, Job; Heard, Edith

2013-01-01

We discuss here a series of testable hypotheses concerning the role of chromosome folding into topologically associating domains (TADs). Several lines of evidence suggest that segmental packaging of chromosomal neighborhoods may underlie features of chromatin that span large domains, such as heterochromatin blocks, association with the nuclear lamina and replication timing. By defining which DNA elements preferentially contact each other, the segmentation of chromosomes into TADs may also underlie many properties of long-range transcriptional regulation. Several observations suggest that TADs can indeed provide a structural basis to regulatory landscapes, by controlling enhancer sharing and allocation. We also discuss how TADs may shape the evolution of chromosomes, by causing maintenance of synteny over large chromosomal segments. Finally we suggest a series of experiments to challenge these ideas and provide concrete examples illustrating how they could be practically applied. PMID:23832846

Chromosomal Flexibility

ERIC Educational Resources Information Center

Journal of College Science Teaching, 2005

2005-01-01

Scientists have shown that a genetic element on one chromosome may direct gene activity on another. Howard Hughes Medical Institute (HHMI) researchers report that a multitasking master-control region appears to over-see both a set of its own genes and a related gene on a nearby chromosome. The findings reinforce the growing importance of location…

Developing a Community-Wide Initiative to Address Childhood Adversity and Toxic Stress: A Case Study of The Philadelphia ACE Task Force.

PubMed

Pachter, Lee M; Lieberman, Leslie; Bloom, Sandra L; Fein, Joel A

The Philadelphia ACE Task Force is a community based collaborative of health care providers, researchers, community-based organizations, funders, and public sector representatives. The mission of the task force is to provide a venue to address childhood adversity and its consequences in the Philadelphia metropolitan region. In this article we describe the origins and metamorphosis of the Philadelphia ACE Task Force, which initially was narrowly focused on screening for adverse childhood experiences (ACEs) in health care settings but expanded its focus to better represent a true community-based approach to sharing experiences with addressing childhood adversity in multiple sectors of the city and region. The task force has been successful in developing a research agenda and conducting research on ACEs in the urban context, and has identified foci of local activity in the areas of professional training and workforce development, community education, and local practical interventions around adversity, trauma, and resiliency. In this article we also address the lessons learned over the first 5 years of the task force's existence and offers recommendations for future efforts to build a local community-based ACEs collaborative. Copyright © 2017 Academic Pediatric Association. Published by Elsevier Inc. All rights reserved.

Development of an Information Literacy Program for the Degree Completion Program at Philadelphia College of Bible.

ERIC Educational Resources Information Center

Brown, Lyn S.; Ryan, G. Jeremiah

One of the major requirements in the degree completion program at Philadelphia College of Bible (Pennsylvania) is the completion of a major research paper. The paper is designed to develop research skills, sharpen writing skills, encourage critical thinking, and promote problem-solving skills. Students were not adequately prepared by either the…

Segmental folding of chromosomes: a basis for structural and regulatory chromosomal neighborhoods?

PubMed

Nora, Elphège P; Dekker, Job; Heard, Edith

2013-09-01

We discuss here a series of testable hypotheses concerning the role of chromosome folding into topologically associating domains (TADs). Several lines of evidence suggest that segmental packaging of chromosomal neighborhoods may underlie features of chromatin that span large domains, such as heterochromatin blocks, association with the nuclear lamina and replication timing. By defining which DNA elements preferentially contact each other, the segmentation of chromosomes into TADs may also underlie many properties of long-range transcriptional regulation. Several observations suggest that TADs can indeed provide a structural basis to regulatory landscapes, by controlling enhancer sharing and allocation. We also discuss how TADs may shape the evolution of chromosomes, by causing maintenance of synteny over large chromosomal segments. Finally we suggest a series of experiments to challenge these ideas and provide concrete examples illustrating how they could be practically applied. © 2013 The Authors. Bioessays published by WILEY Periodicals, Inc.

X-Chromosome dosage compensation.

PubMed

Meyer, Barbara J

2005-06-25

In mammals, flies, and worms, sex is determined by distinctive regulatory mechanisms that cause males (XO or XY) and females (XX) to differ in their dose of X chromosomes. In each species, an essential X chromosome-wide process called dosage compensation ensures that somatic cells of either sex express equal levels of X-linked gene products. The strategies used to achieve dosage compensation are diverse, but in all cases, specialized complexes are targeted specifically to the X chromosome(s) of only one sex to regulate transcript levels. In C. elegans, this sex-specific targeting of the dosage compensation complex (DCC) is controlled by the same developmental signal that establishes sex, the ratio of X chromosomes to sets of autosomes (X:A signal). Molecular components of this chromosome counting process have been defined. Following a common step of regulation, sex determination and dosage compensation are controlled by distinct genetic pathways. C. elegans dosage compensation is implemented by a protein complex that binds both X chromosomes of hermaphrodites to reduce transcript levels by one-half. The dosage compensation complex resembles the conserved 13S condensin complex required for both mitotic and meiotic chromosome resolution and condensation, implying the recruitment of ancient proteins to the new task of regulating gene expression. Within each C. elegans somatic cell, one of the DCC components also participates in the separate mitotic/meiotic condensin complex. Other DCC components play pivotal roles in regulating the number and distribution of crossovers during meiosis. The strategy by which C. elegans X chromosomes attract the condensin-like DCC is known. Small, well-dispersed X-recognition elements act as entry sites to recruit the dosage compensation complex and to nucleate spreading of the complex to X regions that lack recruitment sites. In this manner, a repressed chromatin state is spread in cis over short or long distances, thus establishing the

Mitotic chromosome condensation in vertebrates

DOE Office of Scientific and Technical Information (OSTI.GOV)

Vagnarelli, Paola, E-mail: P.Vagnarelli@ed.ac.uk

2012-07-15

Work from several laboratories over the past 10-15 years has revealed that, within the interphase nucleus, chromosomes are organized into spatially distinct territories [T. Cremer, C. Cremer, Chromosome territories, nuclear architecture and gene regulation in mammalian cells, Nat. Rev. Genet. 2 (2001) 292-301 and T. Cremer, M. Cremer, S. Dietzel, S. Muller, I. Solovei, S. Fakan, Chromosome territories-a functional nuclear landscape, Curr. Opin. Cell Biol. 18 (2006) 307-316]. The overall compaction level and intranuclear location varies as a function of gene density for both entire chromosomes [J.A. Croft, J.M. Bridger, S. Boyle, P. Perry, P. Teague,W.A. Bickmore, Differences in themore » localization and morphology of chromosomes in the human nucleus, J. Cell Biol. 145 (1999) 1119-1131] and specific chromosomal regions [N.L. Mahy, P.E. Perry, S. Gilchrist, R.A. Baldock, W.A. Bickmore, Spatial organization of active and inactive genes and noncoding DNA within chromosome territories, J. Cell Biol. 157 (2002) 579-589] (Fig. 1A, A'). In prophase, when cyclin B activity reaches a high threshold, chromosome condensation occurs followed by Nuclear Envelope Breakdown (NEB) [1]. At this point vertebrate chromosomes appear as compact structures harboring an attachment point for the spindle microtubules physically recognizable as a primary constriction where the two sister chromatids are held together. The transition from an unshaped interphase chromosome to the highly structured mitotic chromosome (compare Figs. 1A and B) has fascinated researchers for several decades now; however a definite picture of how this process is achieved and regulated is not yet in our hands and it will require more investigation to comprehend the complete process. From a biochemical point of view a vertebrate mitotic chromosomes is composed of DNA, histone proteins (60%) and non-histone proteins (40%) [6]. I will discuss below what is known to date on the contribution of these two different

Robertsonian translocation between chromosomes (no.21/14) in relation to the history of spontaneous abortion in a family.

PubMed

Hasanzadeh-NazarAbadi, Mohammad; Baghbani, Fatemeh; Namazi, Iman; Mirzaee, Salmeh

2014-08-01

Approximately 205 million pregnancies occur each year in the worldwide. On the other hand, Spontaneous abortion has been reported in 15-20% of all diagnosed pregnancies. The most common cause of spontaneous abortion is chromosomal abnormalities of the embryo. Robertsonian translocation carriers specially 21-14 are the most common balanced rearrangement among the carrier couples with the history of spontaneous abortion. In order to search for balanced chromosomal rearrangement and cytogenetic disorders, 10 members of related family with consanguinity marriage with the history of recurrent miscarriage were assessed. Cytogenetic evaluation on the basis G-banding technique at high resolution was performed in 3 couples and their related family with the history of idiopathic RSA in order to postulate any balanced chromosomal rearrangement. six members of them appeared with robertsonian balanced translocation between chromosome No.21 to No. 14 with the karyotype of 45, XX, t (14, 21) and 45, XY, t (14, 21), which this results are in agreement with several similar works which claimed that the risk of spontaneous abortion in couples with balanced chromosomal rearrangements is higher compared with general population. Considering to results of present study, it seems as if the cytogenetic analysis of couples with the history of recurrent abortions should be suggested compulsory to estimate the probable presence of any chromosomal rearrangement. This offer wills valuable information for genetic consulting.

Identification of copy number variations associated with congenital heart disease by chromosomal microarray analysis and next-generation sequencing.

PubMed

Zhu, Xiangyu; Li, Jie; Ru, Tong; Wang, Yaping; Xu, Yan; Yang, Ying; Wu, Xing; Cram, David S; Hu, Yali

2016-04-01

To determine the type and frequency of pathogenic chromosomal abnormalities in fetuses diagnosed with congenital heart disease (CHD) using chromosomal microarray analysis (CMA) and validate next-generation sequencing as an alternative diagnostic method. Chromosomal aneuploidies and submicroscopic copy number variations (CNVs) were identified in amniocytes DNA samples from CHD fetuses using high-resolution CMA and copy number variation sequencing (CNV-Seq). Overall, 21 of 115 CHD fetuses (18.3%) referred for CMA had a pathogenic chromosomal anomaly. In six of 73 fetuses (8.2%) with an isolated CHD, CMA identified two cases of DiGeorge syndrome, and one case each of 1q21.1 microdeletion, 16p11.2 microdeletion and Angelman/Prader Willi syndromes, and 22q11.21 microduplication syndrome. In 12 of 42 fetuses (28.6%) with CHD and additional structural abnormalities, CMA identified eight whole or partial trisomies (19.0%), five CNVs (11.9%) associated with DiGeorge, Wolf-Hirschhorn, Miller-Dieker, Cri du Chat and Blepharophimosis, Ptosis, and Epicanthus Inversus syndromes and four other rare pathogenic CNVs (9.5%). Overall, there was a 100% diagnostic concordance between CMA and CNV-Seq for detecting all 21 pathogenic chromosomal abnormalities associated with CHD. CMA and CNV-Seq are reliable and accurate prenatal techniques for identifying pathogenic fetal chromosomal abnormalities associated with cardiac defects. © 2016 John Wiley & Sons, Ltd. © 2016 John Wiley & Sons, Ltd.

History and dating of the publication of the Philadelphia (1822) and London (1823) editions of Edwin James's Account of an expedition from Pittsburgh to the Rocky Mountains

USGS Publications Warehouse

Woodman, Neal

2010-01-01

The public record of Major Stephen H. Long's 1819–1820 exploration of the American north-west, Account of an expedition from Pittsburgh to the Rocky Mountains, compiled by Edwin James, contains valuable contributions regarding the natural landscapes, native peoples and wildlife of a mostly unexplored region of the American west compiled from the notes of some of America's foremost naturalists, and it includes the first descriptions of 67 new species. The original plan was to publish the Account in Philadelphia and London simultaneously, yet these two editions differ substantially in ways that are relevant to the taxonomic contributions in the work. It is generally assumed that the Philadelphia edition was published in early January 1823 and was available first, but little substantive evidence has been presented to support its priority over the London edition. Review of contemporary correspondence and periodicals indicates the Philadelphia edition was available and for sale on 31 December 1822, whereas the London edition was available in late February 1823. As previously assumed by most sources, the Philadelphia edition has priority of publication and is the authority for most species names. Its correct year of publication, however, is 1822 rather than 1823.

Chromosome abnormalities in sperm of individuals with constitutional sex chromosomal abnormalities.

PubMed

Ferlin, A; Garolla, A; Foresta, C

2005-01-01

The most common type of karyotype abnormality detected in infertile subjects is represented by Klinefelter's syndrome, and the most frequent non-chromosomal alteration is represented by Y chromosome long arm microdeletions. Here we report our experience and a review of the literature on sperm sex chromosome aneuploidies in these two conditions. Non mosaic 47,XXY Klinefelter patients (12 subjects) show a significantly lower percentage of normal Y-bearing sperm and slightly higher percentage of normal X-bearing sperm. Consistent with the hypothesis that 47,XXY germ cells may undergo and complete meiosis, aneuploidy rate for XX- and XY-disomies is also increased with respect to controls, whereas the percentage of YY-disomies is normal. Aneuploidy rates in men with mosaic 47,XXY/46,XY (11 subjects) are lower than those observed in men with non-mosaic Klinefelter's syndrome, and only the frequency of XY-disomic sperm is significantly higher with respect to controls. Although the great majority of children born by intracytoplasmic sperm injection from Klinefelter subjects are chromosomally normal, the risk of producing offspring with chromosome aneuploidies is significant. Men with Y chromosome microdeletions (14 subjects) showed a reduction of normal Y-bearing sperm, and an increase in nullisomic and XY-disomic sperm, suggesting an instability of the deleted Y chromosome causing its loss in germ cells, and meiotic alterations leading to XY non-disjunction. Intracytoplasmic injection of sperm from Y-deleted men will therefore transmit the deletion to male children, and therefore the spermatogenic impairment, but raises also concerns of generating 45,X and 47,XXY embryos. Copyright 2005 S. Karger AG, Basel.

Low-frequency chimeric yeast artificial chromosome libraries from flow-sorted human chromosomes 16 and 21.

PubMed Central

McCormick, M K; Campbell, E; Deaven, L; Moyzis, R

1993-01-01

Construction of chromosome-specific yeast artificial chromosome (YAC) libraries from sorted chromosomes was undertaken (i) to eliminate drawbacks associated with first-generation total genomic YAC libraries, such as the high frequency of chimeric YACs, and (ii) to provide an alternative method for generating chromosome-specific YAC libraries in addition to isolating such collections from a total genomic library. Chromosome-specific YAC libraries highly enriched for human chromosomes 16 and 21 were constructed. By maximizing the percentage of fragments with two ligatable ends and performing yeast transformations with less than saturating amounts of DNA in the presence of carrier DNA, YAC libraries with a low percentage of chimeric clones were obtained. The smaller number of YAC clones in these chromosome-specific libraries reduces the effort involved in PCR-based screening and allows hybridization methods to be a manageable screening approach. Images PMID:8430075

Origin of the chromosomal radiation of Madeiran house mice: a microsatellite analysis of metacentric chromosomes

PubMed Central

Förster, D W; Mathias, M L; Britton-Davidian, J; Searle, J B

2013-01-01

Chromosome races of Mus musculus domesticus are characterised by particular sets of metacentric chromosomes formed by Robertsonian fusions and whole-arm reciprocal translocations. The Atlantic island of Madeira is inhabited by six chromosome races of house mice with 6–9 pairs of metacentric chromosomes. Three of these races are characterised by the metacentric 3.8 also found elsewhere in the distribution of M. m. domesticus, including Denmark and Spain. We investigated the possibility that metacentric 3.8 was introduced to Madeira during the initial colonisation, as this could have ‘seeded' the cascade of chromosomal mutation that is the basis of the extraordinary chromosomal radiation observed on the island. Variation at 24 microsatellite loci mapping to three different chromosomal regions (proximal, interstitial and distal) of mouse chromosomes 3 and 8 was investigated in 179 mice from Madeira, Denmark, Portugal, Spain, Italy and Scotland. Analyses of microsatellite loci closely linked to the centromeres of these chromosomes (‘proximal loci') do not support a common evolutionary origin of metacentric 3.8 among Madeiran, Danish and Spanish mouse populations. Our results suggest that Madeiran mice are genetically more similar to standard karyotype mice from Portugal than to metacentric mice from elsewhere. There is expected to be an interruption to gene flow between hybridising metacentric races on Madeira, particularly in the chromosomal regions close to the rearrangement breakpoints. Consistent with this, relating to differentiation involving chromosomes 3 and 8 on Madeira, we found greater genetic structure among races for proximal than interstitial or distal loci. PMID:23232832

Chromosome Disorder Outreach

MedlinePlus

... Chromosome Disorder Outreach, Inc is a non-profit organization. Founded, supported, and run by parents just like ... Chromosome Disorder Outreach, Inc, a 501c non-profit organization. CDO is a 501C3 non-profit organization. FL ...

Novel rapid molecular diagnosis of fetal chromosomal abnormalities associated with recurrent pregnancy loss.

PubMed

Yang, Lan; Tang, Ye; Lu, Mudan; Yang, Yuefen; Xiao, Jianping; Wang, Qiaoxia; Yang, Canfeng; Tao, Hehua; Xiang, Jingying

2016-12-01

Labor-intensive karyotyping is used as the reference standard diagnostic test to identify copy number variants (CNVs) in the fetal genome after recurrent pregnancy loss. Our aim was to present and evaluate a novel molecular assay called CNVplex that could potentially be used as an alternative method to conventional karyotyping for diagnosing fetal chromosomal abnormalities associated with recurrent pregnancy loss. Using karyotyping as the reference standard, CNVplex was performed to identify fetal chromosomal abnormalities in the chorionic villus samples from 76 women experiencing at least two pregnancy losses. Its diagnostic accuracy, sensitivity, and specificity were evaluated to detect aneuploidies associated with recurrent pregnancy loss. Turnaround time and costs of CNVplex were also measured. Diagnostic accuracy of CNVplex in aneuploidies that are associated with recurrent pregnancy loss was 1.0 (95% CI 0.94-1.0), sensitivity was 100% (95% CI 0.89-1.0), and specificity was 100% (95% CI 0.875-1.0). Diagnostic accuracy of CNVplex was similar to that of karyotyping. Both karyotyping and CNVplex assay detected 27 autosomal trisomies, three 45,X monosomies, and three polyploidies. CNVplex also detected additional novel structural abnormalities of the fetal genome. Compared with karyotyping, CNVplex significantly (p = 0.001) reduced the waiting time by 13.98 days (95% CI 13.88-14.08) and the cost by US $241 (95% CI 234.53-247.47). CNVplex is a novel effective assay for diagnosing fetal chromosomal abnormalities associated with recurrent pregnancy loss. In the routine clinical work-up of recurrent pregnancy loss, diagnostic accuracy of CNVplex is comparable to that of conventional karyotyping but it requires less waiting time and has lower cost. © 2016 Nordic Federation of Societies of Obstetrics and Gynecology.

The Launch of the Philadelphia Education Research Consortium: Lessons Learned from the First Year of Implementation

ERIC Educational Resources Information Center

Shaw, Kate

2016-01-01

The Philadelphia Education Research Consortium (PERC) was launched in July 2014 as an innovative place-based consortium of educational research partners from multiple sectors. Its primary objective is to provide research and analyses on some of the city's most pressing education issues. As such, PERC's research agenda is driven by both traditional…

Philadelphia-negative classical myeloproliferative neoplasms: critical concepts and management recommendations from European LeukemiaNet.

PubMed

Barbui, Tiziano; Barosi, Giovanni; Birgegard, Gunnar; Cervantes, Francisco; Finazzi, Guido; Griesshammer, Martin; Harrison, Claire; Hasselbalch, Hans Carl; Hehlmann, Rudiger; Hoffman, Ronald; Kiladjian, Jean-Jacques; Kröger, Nicolaus; Mesa, Ruben; McMullin, Mary F; Pardanani, Animesh; Passamonti, Francesco; Vannucchi, Alessandro M; Reiter, Andreas; Silver, Richard T; Verstovsek, Srdan; Tefferi, Ayalew

2011-02-20

We present a review of critical concepts and produce recommendations on the management of Philadelphia-negative classical myeloproliferative neoplasms, including monitoring, response definition, first- and second-line therapy, and therapy for special issues. Key questions were selected according the criterion of clinical relevance. Statements were produced using a Delphi process, and two consensus conferences involving a panel of 21 experts appointed by the European LeukemiaNet (ELN) were convened. Patients with polycythemia vera (PV) and essential thrombocythemia (ET) should be defined as high risk if age is greater than 60 years or there is a history of previous thrombosis. Risk stratification in primary myelofibrosis (PMF) should start with the International Prognostic Scoring System (IPSS) for newly diagnosed patients and dynamic IPSS for patients being seen during their disease course, with the addition of cytogenetics evaluation and transfusion status. High-risk patients with PV should be managed with phlebotomy, low-dose aspirin, and cytoreduction, with either hydroxyurea or interferon at any age. High-risk patients with ET should be managed with cytoreduction, using hydroxyurea at any age. Monitoring response in PV and ET should use the ELN clinicohematologic criteria. Corticosteroids, androgens, erythropoiesis-stimulating agents, and immunomodulators are recommended to treat anemia of PMF, whereas hydroxyurea is the first-line treatment of PMF-associated splenomegaly. Indications for splenectomy include symptomatic portal hypertension, drug-refractory painful splenomegaly, and frequent RBC transfusions. The risk of allogeneic stem-cell transplantation-related complications is justified in transplantation-eligible patients whose median survival time is expected to be less than 5 years.

Philadelphia-Negative Classical Myeloproliferative Neoplasms: Critical Concepts and Management Recommendations From European LeukemiaNet

PubMed Central

Barbui, Tiziano; Barosi, Giovanni; Birgegard, Gunnar; Cervantes, Francisco; Finazzi, Guido; Griesshammer, Martin; Harrison, Claire; Hasselbalch, Hans Carl; Hehlmann, Rudiger; Hoffman, Ronald; Kiladjian, Jean-Jacques; Kröger, Nicolaus; Mesa, Ruben; McMullin, Mary F.; Pardanani, Animesh; Passamonti, Francesco; Vannucchi, Alessandro M.; Reiter, Andreas; Silver, Richard T.; Verstovsek, Srdan; Tefferi, Ayalew

2011-01-01

We present a review of critical concepts and produce recommendations on the management of Philadelphia-negative classical myeloproliferative neoplasms, including monitoring, response definition, first- and second-line therapy, and therapy for special issues. Key questions were selected according the criterion of clinical relevance. Statements were produced using a Delphi process, and two consensus conferences involving a panel of 21 experts appointed by the European LeukemiaNet (ELN) were convened. Patients with polycythemia vera (PV) and essential thrombocythemia (ET) should be defined as high risk if age is greater than 60 years or there is a history of previous thrombosis. Risk stratification in primary myelofibrosis (PMF) should start with the International Prognostic Scoring System (IPSS) for newly diagnosed patients and dynamic IPSS for patients being seen during their disease course, with the addition of cytogenetics evaluation and transfusion status. High-risk patients with PV should be managed with phlebotomy, low-dose aspirin, and cytoreduction, with either hydroxyurea or interferon at any age. High-risk patients with ET should be managed with cytoreduction, using hydroxyurea at any age. Monitoring response in PV and ET should use the ELN clinicohematologic criteria. Corticosteroids, androgens, erythropoiesis-stimulating agents, and immunomodulators are recommended to treat anemia of PMF, whereas hydroxyurea is the first-line treatment of PMF-associated splenomegaly. Indications for splenectomy include symptomatic portal hypertension, drug-refractory painful splenomegaly, and frequent RBC transfusions. The risk of allogeneic stem-cell transplantation–related complications is justified in transplantation-eligible patients whose median survival time is expected to be less than 5 years. PMID:21205761

Funding quality pre-kindergarten slots with Philadelphia's new 'sugary drink tax': simulating effects of using an excise tax to address a social determinant of health.

PubMed

Langellier, Brent A; Lê-Scherban, Félice; Purtle, Jonathan

2017-09-01

Philadelphia passed a 1·5-cent-per-ounce sweetened beverage tax (SBT). Revenue will fund 10 000 quality pre-kindergarten slots for poor children. It is imperative to understand how revenue from SBT can be used to fund programmes to address education and other social determinants of health. The objective of the present study was to simulate quality pre-kindergarten attendance, educational achievement and sugar-sweetened beverage (SSB) consumption among Philadelphia children and adolescents under six intervention scenarios: (i) no intervention; (ii) 10 000 additional quality pre-kindergarten slots; (iii) a 1·5-cent-per-ounce SBT; (iv) expanded pre-kindergarten and 1·5-cent-per-ounce SBT; (v) a 3-cent-per-ounce SBT; and (vi) expanded pre-kindergarten and 3-cent-per-ounce SBT. We used an agent-based model to estimate pre-kindergarten enrolment, educational achievement and SSB consumption under the six policy scenarios. We identified key parameters in the model from the published literature and secondary analyses of the Panel Study of Income Dynamics - Child Development Supplement. Philadelphia, Pennsylvania, USA. Philadelphia children and adolescents aged 4-18 years. A 1·5-cents-per-ounce tax would reduce SSB consumption by 1·3 drinks/week among Philadelphia children and adolescents relative to no intervention, with larger effects among children below the poverty level. Quality pre-kindergarten expansion magnifies the effect of the SBT by 8 %, but has the largest effect on moderate-income children just above the poverty level. The SBT and quality pre-kindergarten programme each reduce SSB consumption, but primarily benefit different children and adolescents. Pairing an excise tax with a complementary programme to improve a social determinant of health represents a progressive strategy to combat obesity, a disease regressive in its social patterning.

Numerically abnormal chromosome constitutions in humans

DOE Office of Scientific and Technical Information (OSTI.GOV)

NONE

1993-12-31

Chapter 24, discusses numerically abnormal chromosome constitutions in humans. This involves abnormalities of human chromosome number, including polyploidy (when the number of sets of chromosomes increases) and aneuploidy (when the number of individual normal chromosomes changes). Chapter sections discuss the following chromosomal abnormalities: human triploids, imprinting and uniparental disomy, human tetraploids, hydatidiform moles, anomalies caused by chromosomal imbalance, 13 trisomy (D{sub 1} trisomy, Patau syndrome), 21 trisomy (Down syndrome), 18 trisomy syndrome (Edwards syndrome), other autosomal aneuploidy syndromes, and spontaneous abortions. The chapter concludes with remarks on the nonrandom participation of chromosomes in trisomy. 69 refs., 3 figs., 4 tabs.

Methods for chromosome-specific staining

DOEpatents

Gray, J.W.; Pinkel, D.

1995-09-05

Methods and compositions for chromosome-specific staining are provided. Compositions comprise heterogeneous mixtures of labeled nucleic acid fragments having substantially complementary base sequences to unique sequence regions of the chromosomal DNA for which their associated staining reagent is specific. Methods include ways for making the chromosome-specific staining compositions of the invention, and methods for applying the staining compositions to chromosomes. 3 figs.

Methods for chromosome-specific staining

DOEpatents

Gray, Joe W.; Pinkel, Daniel

1995-01-01

Methods and compositions for chromosome-specific staining are provided. Compositions comprise heterogenous mixtures of labeled nucleic acid fragments having substantially complementary base sequences to unique sequence regions of the chromosomal DNA for which their associated staining reagent is specific. Methods include methods for making the chromosome-specific staining compositions of the invention, and methods for applying the staining compositions to chromosomes.

A POPULATION EXPOSURE MODEL FOR PARTICULATE MATTER: CASE STUDY RESULTS FOR PM 2.5 IN PHILADELPHIA, PA

EPA Science Inventory

A population exposure model for particulate matter (PM), called the Stochastic Human Exposure and Dose Simulation (SHEDS-PM) model, has been developed and applied in a case study of daily PM2.5 exposures for the population living in Philadelphia, PA. SHEDS-PM is a probabilisti...

40 CFR 52.2053 - The Motor Vehicle Emissions Budgets for the Pennsylvania Counties in the Philadelphia-Wilmington...

Code of Federal Regulations, 2014 CFR

2014-07-01

... Nonattainment Area 52.2053 Section 52.2053 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED... § 52.2053 The Motor Vehicle Emissions Budgets for the Pennsylvania Counties in the Philadelphia-Wilmington, PA-NJ-DE 1997 Fine Particulate Matter Nonattainment Area As of April 3, 2013, EPA approves the...

40 CFR 52.2053 - The Motor Vehicle Emissions Budgets for the Pennsylvania Counties in the Philadelphia-Wilmington...

Code of Federal Regulations, 2013 CFR

2013-07-01

... Nonattainment Area 52.2053 Section 52.2053 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED... § 52.2053 The Motor Vehicle Emissions Budgets for the Pennsylvania Counties in the Philadelphia-Wilmington, PA-NJ-DE 1997 Fine Particulate Matter Nonattainment Area As of April 3, 2013, EPA approves the...

Variations on a Theme: The Shift from Distinction to Commonality in Philadelphia's Diverse Provider Model 2002-2008

ERIC Educational Resources Information Center

Bulkley, Katrina E.; Travers, Eva

2013-01-01

Recent years have seen a growing push toward Portfolio Management Models that incorporate a variety of "providers" operating public schools. One rationale for this is that such organizations can offer distinct and innovative educational practices. This article describes the Diverse Provider Model implemented in Philadelphia from…

Acentric chromosome ends are prone to fusion with functional chromosome ends through a homology-directed rearrangement

PubMed Central

Ohno, Yuko; Ogiyama, Yuki; Kubota, Yoshino; Kubo, Takuya; Ishii, Kojiro

2016-01-01

The centromeres of many eukaryotic chromosomes are established epigenetically on potentially variable tandem repeats; hence, these chromosomes are at risk of being acentric. We reported previously that artificially created acentric chromosomes in the fission yeast Schizosaccharomyces pombe can be rescued by end-to-end fusion with functional chromosomes. Here, we show that most acentric/functional chromosome fusion events in S. pombe cells harbouring an acentric chromosome I differed from the non-homologous end-joining-mediated rearrangements that result in deleterious dicentric fusions in normal cells, and were elicited by a previously unidentified homologous recombination (HR) event between chromosome end-associated sequences. The subtelomere repeats associated with the non-fusogenic ends were also destabilized in the surviving cells, suggesting a causal link between general subtelomere destabilization and acentric/functional chromosome fusion. A mutational analysis indicated that a non-canonical HR pathway was involved in the rearrangement. These findings are indicative of a latent mechanism that conditionally induces general subtelomere instability, presumably in the face of accidental centromere loss events, resulting in rescue of the fatal acentric chromosomes by interchromosomal HR. PMID:26433224

[Diagnosis of a case with Williams-Beuren syndrome with nephrocalcinosis using chromosome microarray analysis].

PubMed

Jin, S J; Liu, M; Long, W J; Luo, X P

2016-12-02

Objective: To explore the clinical phenotypes and the genetic cause for a boy with unexplained growth retardation, nephrocalcinosis, auditory anomalies and multi-organ/system developmental disorders. Method: Routine G-banding and chromosome microarray analysis were applied to a child with unexplained growth retardation, nephrocalcinosis, auditory anomalies and multi-organ/system developmental disorders treated in the Department of Pediatrics of Tongji Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology in September 2015 and his parents to conduct the chromosomal karyotype analysis and the whole genome scanning. Deleted genes were searched in the Decipher and NCBI databases, and their relationships with the clinical phenotypes were analyzed. Result: A six-month-old boy was refered to us because of unexplained growth retardation and feeding intolerance.The affected child presented with abnormal manifestation such as special face, umbilical hernia, growth retardation, hypothyroidism, congenital heart disease, right ear sensorineural deafness, hypercalcemia and nephrocalcinosis. The child's karyotype was 46, XY, 16qh + , and his parents' karyotypes were normal. Chromosome microarray analysis revealed a 1 436 kb deletion on the 7q11.23(72701098_74136633) region of the child. This region included 23 protein-coding genes, which were reported to be corresponding to Williams-Beuren syndrome and its certain clinical phenotypes. His parents' results of chromosome microarray analysis were normal. Conclusion: A boy with characteristic manifestation of Williams-Beuren syndrome and rare nephrocalcinosis was diagnosed using chromosome microarray analysis. The deletion on the 7q11.23 might be related to the clinical phenotypes of Williams-Beuren syndrome, yet further studies are needed.

Origin of amphibian and avian chromosomes by fission, fusion, and retention of ancestral chromosomes

PubMed Central

Voss, Stephen R.; Kump, D. Kevin; Putta, Srikrishna; Pauly, Nathan; Reynolds, Anna; Henry, Rema J.; Basa, Saritha; Walker, John A.; Smith, Jeramiah J.

2011-01-01

Amphibian genomes differ greatly in DNA content and chromosome size, morphology, and number. Investigations of this diversity are needed to identify mechanisms that have shaped the evolution of vertebrate genomes. We used comparative mapping to investigate the organization of genes in the Mexican axolotl (Ambystoma mexicanum), a species that presents relatively few chromosomes (n = 14) and a gigantic genome (>20 pg/N). We show extensive conservation of synteny between Ambystoma, chicken, and human, and a positive correlation between the length of conserved segments and genome size. Ambystoma segments are estimated to be four to 51 times longer than homologous human and chicken segments. Strikingly, genes demarking the structures of 28 chicken chromosomes are ordered among linkage groups defining the Ambystoma genome, and we show that these same chromosomal segments are also conserved in a distantly related anuran amphibian (Xenopus tropicalis). Using linkage relationships from the amphibian maps, we predict that three chicken chromosomes originated by fusion, nine to 14 originated by fission, and 12–17 evolved directly from ancestral tetrapod chromosomes. We further show that some ancestral segments were fused prior to the divergence of salamanders and anurans, while others fused independently and randomly as chromosome numbers were reduced in lineages leading to Ambystoma and Xenopus. The maintenance of gene order relationships between chromosomal segments that have greatly expanded and contracted in salamander and chicken genomes, respectively, suggests selection to maintain synteny relationships and/or extremely low rates of chromosomal rearrangement. Overall, the results demonstrate the value of data from diverse, amphibian genomes in studies of vertebrate genome evolution. PMID:21482624

Sex chromosomal abnormalities associated with equine infertility: validation of a simple molecular screening tool in the Purebred Spanish Horse.

PubMed

Anaya, G; Molina, A; Valera, M; Moreno-Millán, M; Azor, P; Peral-García, P; Demyda-Peyrás, S

2017-08-01

Chromosomal abnormalities in the sex chromosome pair (ECAX and ECAY) are widely associated with reproductive problems in horses. However, a large proportion of these abnormalities remains undiagnosed due to the lack of an affordable diagnostic tool that allows for avoiding karyotyping tests. Hereby, we developed an STR (single-tandem-repeat)-based molecular method to determine the presence of the main sex chromosomal abnormalities in horses in a fast, cheap and reliable way. The frequency of five ECAX-linked (LEX026, LEX003, TKY38, TKY270 and UCDEQ502) and two ECAY-linked (EcaYH12 and SRY) markers was characterized in 261 Purebred Spanish Horses to determine the efficiency of the methodology developed to be used as a chromosomal diagnostic tool. All the microsatellites analyzed were highly polymorphic, with a sizeable number of alleles (polymorphic information content > 0.5). Based on this variability, the methodology showed 100% sensitivity and 99.82% specificity to detect the most important sex chromosomal abnormalities reported in horses (chimerism, Turner's syndrome and sex reversal syndromes). The method was also validated with 100% efficiency in 10 individuals previously diagnosed as chromosomally aberrant. This STR screening panel is an efficient and reliable molecular-cytogenetic tool for the early detection of sex chromosomal abnormalities in equines that could be included in breeding programs to save money, effort and time of veterinary practitioners and breeders. © 2017 Stichting International Foundation for Animal Genetics.

Numerous Transitions of Sex Chromosomes in Diptera

PubMed Central

Vicoso, Beatriz; Bachtrog, Doris

2015-01-01

Many species groups, including mammals and many insects, determine sex using heteromorphic sex chromosomes. Diptera flies, which include the model Drosophila melanogaster, generally have XY sex chromosomes and a conserved karyotype consisting of six chromosomal arms (five large rods and a small dot), but superficially similar karyotypes may conceal the true extent of sex chromosome variation. Here, we use whole-genome analysis in 37 fly species belonging to 22 different families of Diptera and uncover tremendous hidden diversity in sex chromosome karyotypes among flies. We identify over a dozen different sex chromosome configurations, and the small dot chromosome is repeatedly used as the sex chromosome, which presumably reflects the ancestral karyotype of higher Diptera. However, we identify species with undifferentiated sex chromosomes, others in which a different chromosome replaced the dot as a sex chromosome or in which up to three chromosomal elements became incorporated into the sex chromosomes, and others yet with female heterogamety (ZW sex chromosomes). Transcriptome analysis shows that dosage compensation has evolved multiple times in flies, consistently through up-regulation of the single X in males. However, X chromosomes generally show a deficiency of genes with male-biased expression, possibly reflecting sex-specific selective pressures. These species thus provide a rich resource to study sex chromosome biology in a comparative manner and show that similar selective forces have shaped the unique evolution of sex chromosomes in diverse fly taxa. PMID:25879221

Painting of fourth and chromosome-wide regulation of the 4th chromosome in Drosophila melanogaster.

PubMed

Johansson, Anna-Mia; Stenberg, Per; Bernhardsson, Carolina; Larsson, Jan

2007-05-02

Drosophila melanogaster exhibits two expression-regulating systems that target whole, specific chromosomes: the dosage compensation system whereby the male-specific lethal complex doubles transcription of genes on the male X-chromosome and the chromosome 4-specific protein Painting of fourth, POF. POF is the first example of an autosome-specific protein and its presence raises the question of the universality of chromosome-specific regulation. Here we show that POF and heterochromatin protein 1 (HP1) are involved in the global regulation of the 4th chromosome. Contrary to previous conclusions, Pof is not essential for survival of diplo-4th karyotype flies. However, Pof is essential for survival of haplo-4th individuals and expression of chromosome 4 genes in diplo-4th individuals is decreased in the absence of Pof. Mapping of POF using chromatin immunoprecipitation suggested that it binds within genes. Furthermore, we show that POF binding is dependent on heterochromatin and that POF and HP1 bind interdependently to the 4th chromosome. We propose a balancing mechanism involving POF and HP1 that provides a feedback system for fine-tuning expression status of genes on the 4th chromosome.

Painting of fourth and chromosome-wide regulation of the 4th chromosome in Drosophila melanogaster

PubMed Central

Johansson, Anna-Mia; Stenberg, Per; Bernhardsson, Carolina; Larsson, Jan

2007-01-01

Drosophila melanogaster exhibits two expression-regulating systems that target whole, specific chromosomes: the dosage compensation system whereby the male-specific lethal complex doubles transcription of genes on the male X-chromosome and the chromosome 4-specific protein Painting of fourth, POF. POF is the first example of an autosome-specific protein and its presence raises the question of the universality of chromosome-specific regulation. Here we show that POF and heterochromatin protein 1 (HP1) are involved in the global regulation of the 4th chromosome. Contrary to previous conclusions, Pof is not essential for survival of diplo-4th karyotype flies. However, Pof is essential for survival of haplo-4th individuals and expression of chromosome 4 genes in diplo-4th individuals is decreased in the absence of Pof. Mapping of POF using chromatin immunoprecipitation suggested that it binds within genes. Furthermore, we show that POF binding is dependent on heterochromatin and that POF and HP1 bind interdependently to the 4th chromosome. We propose a balancing mechanism involving POF and HP1 that provides a feedback system for fine-tuning expression status of genes on the 4th chromosome. PMID:17318176

78 FR 76142 - Adequacy Status of the Submitted Attainment Plan for the Delaware Portion of the Philadelphia...

Federal Register 2010, 2011, 2012, 2013, 2014

2013-12-16

... ammonia for the Delaware portion of the Philadelphia-Wilmington-New Jersey nonattainment area because it... precursors and the State's conclusion that motor vehicle emissions of SO 2 , VOCs, and ammonia do not... budgets for SO 2 , VOCs, and ammonia is consistent with the requirements of the transportation conformity...

School Autonomy and District Support: How Principals Respond to a Tiered Autonomy Initiative in Philadelphia Public Schools

ERIC Educational Resources Information Center

Steinberg, Matthew P.; Cox, Amanda Barrett

2017-01-01

A tiered autonomy policy was recently implemented in Philadelphia, where select principals were granted autonomy to manage school operations while others were promised greater district support to improve school functioning. This article provides evidence on how principals used their autonomy and the extent of district support for non-autonomous…

Shifting syndromes: Sex chromosome variations and intersex classifications

PubMed Central

Griffiths, David Andrew

2018-01-01

The 2006 ‘Consensus statement on management of intersex disorders’ recommended moving to a new classification of intersex variations, framed in terms of ‘disorders of sex development’ or DSD. Part of the rationale for this change was to move away from associations with gender, and to increase clarity by grounding the classification system in genetics. While the medical community has largely accepted the move, some individuals from intersex activist communities have condemned it. In addition, people both inside and outside the medical community have disagreed about what should be covered by the classification system, in particular whether sex chromosome variations and the related diagnoses of Turner and Klinefelter’s syndromes should be included. This article explores initial descriptions of Turner and Klinefelter’s syndromes and their subsequent inclusion in intersex classifications, which were increasingly grounded in scientific understandings of sex chromosomes that emerged in the 1950s. The article questions the current drive to stabilize and ‘sort out’ intersex classifications through a grounding in genetics. Alternative social and historical definitions of intersex – such as those proposed by the intersex activists – have the potential to do more justice to the lived experience of those affected by such classifications and their consequences. PMID:29424285

Chromosomal Evolution in Chiroptera

PubMed Central

Sotero-Caio, Cibele G.; Baker, Robert J.; Volleth, Marianne

2017-01-01

Chiroptera is the second largest order among mammals, with over 1300 species in 21 extant families. The group is extremely diverse in several aspects of its natural history, including dietary strategies, ecology, behavior and morphology. Bat genomes show ample chromosome diversity (from 2n = 14 to 62). As with other mammalian orders, Chiroptera is characterized by clades with low, moderate and extreme chromosomal change. In this article, we will discuss trends of karyotypic evolution within distinct bat lineages (especially Phyllostomidae, Hipposideridae and Rhinolophidae), focusing on two perspectives: evolution of genome architecture, modes of chromosomal evolution, and the use of chromosome data to resolve taxonomic problems. PMID:29027987

Y chromosome specific nucleic acid probe and method for determining the Y chromosome in situ

DOEpatents

Gray, Joe W.; Weier, Heinz-Ulrich

1998-01-01

A method for producing a Y chromosome specific probe selected from highly repeating sequences on that chromosome is described. There is little or no nonspecific binding to autosomal and X chromosomes, and a very large signal is provided. Inventive primers allowing the use of PCR for both sample amplification and probe production are described, as is their use in producing large DNA chromosome painting sequences.

Y chromosome specific nucleic acid probe and method for identifying the Y chromosome in SITU

DOEpatents

Gray, Joe W.; Weier, Heinz-Ulrich

1999-01-01

A method for producing a Y chromosome specific probe selected from highly repeating sequences on that chromosome is described. There is little or no nonspecific binding to autosomal and X chromosomes, and a very large signal is provided. Inventive primers allowing the use of PCR for both sample amplification and probe production are described, as is their use in producing large DNA chromosome painting sequences.

Y chromosome specific nucleic acid probe and method for determining the Y chromosome in situ

DOEpatents

Gray, Joe W.; Weier, Heinz-Ulrich

2001-01-01

A method for producing a Y chromosome specific probe selected from highly repeating sequences on that chromosome is described. There is little or no nonspecific binding to autosomal and X chromosomes, and a very large signal is provided. Inventive primers allowing the use of PCR for both sample amplification and probe production are described, as is their use in producing large DNA chromosome painting sequences.

Y chromosome specific nucleic acid probe and method for determining the Y chromosome in situ

DOEpatents

Gray, J.W.; Weier, H.U.

1998-11-24

A method for producing a Y chromosome specific probe selected from highly repeating sequences on that chromosome is described. There is little or no nonspecific binding to autosomal and X chromosomes, and a very large signal is provided. Inventive primers allowing the use of PCR for both sample amplification and probe production are described, as is their use in producing large DNA chromosome painting sequences. 9 figs.

Y chromosome specific nucleic acid probe and method for identifying the Y chromosome in SITU

DOEpatents

Gray, J.W.; Weier, H.U.

1999-03-30

A method for producing a Y chromosome specific probe selected from highly repeating sequences on that chromosome is described. There is little or no nonspecific binding to autosomal and X chromosomes, and a very large signal is provided. Inventive primers allowing the use of PCR for both sample amplification and probe production are described, as is their use in producing large DNA chromosome painting sequences. 9 figs.

Chromosomal evolution among leaf-nosed nectarivorous bats – evidence from cross-species chromosome painting (Phyllostomidae, Chiroptera)

PubMed Central

2013-01-01

Background New World leaf-nosed bats, Phyllostomidae, represent a lineage of Chiroptera marked by unprecedented morphological/ecological diversity and extensive intergeneric chromosomal reorganization. There are still disagreements regarding their systematic relationships due to morphological convergence among some groups. Their history of karyotypic evolution also remains to be documented. Results To better understand the evolutionary relationships within Phyllostomidae, we developed chromosome paints from the bat species Macrotus californicus. We tested the potential of these paints as phylogenetic tools by looking for chromosomal signatures in two lineages of nectarivorous phyllostomids whose independent origins have been statistically supported by molecular phylogenies. By examining the chromosomal homologies defined by chromosome painting among two representatives of the subfamily Glossophaginae (Glossophaga soricina and Anoura cultrata) and one species from the subfamily Lonchophyllinae (Lonchophylla concava), we found chromosomal correspondence in regions not previously detected by other comparative cytogenetic techniques. We proposed the corresponding human chromosomal segments for chromosomes of the investigated species and found two syntenic associations shared by G. soricina and A. cultrata. Conclusion Comparative painting with whole chromosome-specific paints of M. californicus demonstrates an extensive chromosomal reorganization within the two lineages of nectarivorous phyllostomids, with a large number of chromosomes shared between M. californicus and G. soricina. We show that the evolution of nectar-feeding bats occurs mainly by reshuffling of chiropteran Evolutionarily Conserved Units (ECUs). Robertsonian fusions/fissions and inversions seem to be important modifiers of phyllostomid karyotypes, and autapomorphic character states are common within species. Macrotus californicus chromosome paints will be a valuable tool for documenting the pattern of

Biological dosimetry by interphase chromosome painting.

PubMed

Durante, M; George, K; Yang, T C

1996-01-01

Both fluorescence in situ hybridization of metaphase spreads with whole-chromosome probes and premature chromosome condensation in interphase nuclei have been used in the past to estimate the radiation dose to lymphocytes. We combined these techniques to evaluate the feasibility of using painted interphase chromosomes for biodosimetry. Human peripheral lymphocytes were exposed to gamma rays and fused to mitotic Chinese hamster cells either immediately after irradiation or after 8 h incubation at 37 degrees C. Interphase or metaphase human chromosomes were hybridized with a composite probe specific for human chromosomes 3 and 4. The dose-response curve for fragment induction immediately after irradiation was linear; these results reflected breakage frequency in the total genome in terms of DNA content per chromosome. At 8 h after irradiation, the dose-response curve for chromosome interchanges, the prevalent aberration in interphase chromosomes, was linear-quadratic and similar to that observed for metaphase chromosomes. These results suggest that painting prematurely condensed chromosomes can be useful for biological dosimetry when blood samples are available shortly after the exposure, or when interphase cells are to be scored instead of mitotic cells.

Biological dosimetry by interphase chromosome painting

NASA Technical Reports Server (NTRS)

Durante, M.; George, K.; Yang, T. C.

1996-01-01

Both fluorescence in situ hybridization of metaphase spreads with whole-chromosome probes and premature chromosome condensation in interphase nuclei have been used in the past to estimate the radiation dose to lymphocytes. We combined these techniques to evaluate the feasibility of using painted interphase chromosomes for biodosimetry. Human peripheral lymphocytes were exposed to gamma rays and fused to mitotic Chinese hamster cells either immediately after irradiation or after 8 h incubation at 37 degrees C. Interphase or metaphase human chromosomes were hybridized with a composite probe specific for human chromosomes 3 and 4. The dose-response curve for fragment induction immediately after irradiation was linear; these results reflected breakage frequency in the total genome in terms of DNA content per chromosome. At 8 h after irradiation, the dose-response curve for chromosome interchanges, the prevalent aberration in interphase chromosomes, was linear-quadratic and similar to that observed for metaphase chromosomes. These results suggest that painting prematurely condensed chromosomes can be useful for biological dosimetry when blood samples are available shortly after the exposure, or when interphase cells are to be scored instead of mitotic cells.

Mechanisms of Chromosome Congression during Mitosis

PubMed Central

Maiato, Helder; Gomes, Ana Margarida; Sousa, Filipe; Barisic, Marin

2017-01-01

Chromosome congression during prometaphase culminates with the establishment of a metaphase plate, a hallmark of mitosis in metazoans. Classical views resulting from more than 100 years of research on this topic have attempted to explain chromosome congression based on the balance between opposing pulling and/or pushing forces that reach an equilibrium near the spindle equator. However, in mammalian cells, chromosome bi-orientation and force balance at kinetochores are not required for chromosome congression, whereas the mechanisms of chromosome congression are not necessarily involved in the maintenance of chromosome alignment after congression. Thus, chromosome congression and maintenance of alignment are determined by different principles. Moreover, it is now clear that not all chromosomes use the same mechanism for congressing to the spindle equator. Those chromosomes that are favorably positioned between both poles when the nuclear envelope breaks down use the so-called “direct congression” pathway in which chromosomes align after bi-orientation and the establishment of end-on kinetochore-microtubule attachments. This favors the balanced action of kinetochore pulling forces and polar ejection forces along chromosome arms that drive chromosome oscillatory movements during and after congression. The other pathway, which we call “peripheral congression”, is independent of end-on kinetochore microtubule-attachments and relies on the dominant and coordinated action of the kinetochore motors Dynein and Centromere Protein E (CENP-E) that mediate the lateral transport of peripheral chromosomes along microtubules, first towards the poles and subsequently towards the equator. How the opposite polarities of kinetochore motors are regulated in space and time to drive congression of peripheral chromosomes only now starts to be understood. This appears to be regulated by position-dependent phosphorylation of both Dynein and CENP-E and by spindle microtubule

Amplification of chromosomal DNA in situ

DOEpatents

Christian, Allen T.; Coleman, Matthew A.; Tucker, James D.

2002-01-01

Amplification of chromosomal DNA in situ to increase the amount of DNA associated with a chromosome or chromosome region is described. The amplification of chromosomal DNA in situ provides for the synthesis of Fluorescence in situ Hybridization (FISH) painting probes from single dissected chromosome fragments, the production of cDNA libraries from low copy mRNAs and improved in Comparative Genomic Hybridization (CGH) procedures.

Compositions for chromosome-specific staining

DOEpatents

Gray, Joe W.; Pinkel, Daniel

1998-01-01

Methods and compositions for staining based upon nucleic acid sequence that employ nucleic acid probes are provided. Said methods produce staining patterns that can be tailored for specific cytogenetic analyses. Said probes are appropriate for in situ hybridization and stain both interphase and metaphase chromosomal material with reliable signals. The nucleic acid probes are typically of a complexity greater than 50 kb, the complexity depending upon the cytogenetic application. Methods are provided to disable the hybridization capacity of shared, high copy repetitive sequences and/or remove such sequences to provide for useful contrast. Still further methods are provided to produce chromosome-specific staining reagents which are made specific to the targeted chromosomal material, which can be one or more whole chromosomes, one or more regions on one or more chromosomes, subsets of chromosomes and/or the entire genome. Probes and test kits are provided for use in tumor cytogenetics, in the detection of disease related loci, in analysis of structural abnormalities, such as translocations, and for biological dosimetry. Further, methods and prenatal test kits are provided to stain targeted chromosomal material of fetal cells, including fetal cells obtained from maternal blood. Still further, the invention provides for automated means to detect and analyse chromosomal abnormalities.

Acrocentric chromosome associations in man.

PubMed Central

Jacobs, P A; Mayer, M; Morton, N E

1976-01-01

Heterogeneity among chromosomes was found to be a highly significant source of variation for association proportions, while culture, slide, and observer were negligible sources of variation for association proportions although important for numbers of associations. The consequences of these results for tests of group differences are discussed. It seems evident that each pair of acrocentric chromosomes has its own characteristic probability of entering into association. This is presumably a combination of the probability for each individual member of the pair, a proposition easily tested utilizing acrocentric chromosomes carrying polymorphisms which allow each member of the pair to be individually recognized. A mathematical theory for pairwise satellite association was developed and shown to fit observations on banded chromosomes. While we found very significant heterogeneity among individuals in the frequency with which different chromosomes entered into associations, there was no significant evidence for preferential association between any particular chromosomes, either heterologous or homologous. This finding in our material of apparently random associations between different chromosomes is contrary to claims made by other investigators and should be tested on other material. No correlation was found between the phenotype of the chromosome, as judged by cytogenetic polymorphisms, and its probability of association. PMID:795295

Compositions for chromosome-specific staining

DOEpatents

Gray, J.W.; Pinkel, D.

1998-05-26

Methods and compositions for staining based upon nucleic acid sequence that employ nucleic acid probes are provided. The methods produce staining patterns that can be tailored for specific cytogenetic analyses. The probes are appropriate for in situ hybridization and stain both interphase and metaphase chromosomal material with reliable signals. The nucleic acid probes are typically of a complexity greater than 50 kb, the complexity depending upon the cytogenetic application. Methods are provided to disable the hybridization capacity of shared, high copy repetitive sequences and/or remove such sequences to provide for useful contrast. Still further methods are provided to produce chromosome-specific staining reagents which are made specific to the targeted chromosomal material, which can be one or more whole chromosomes, one or more regions on one or more chromosomes, subsets of chromosomes and/or the entire genome. Probes and test kits are provided for use in tumor cytogenetics, in the detection of disease related loci, in analysis of structural abnormalities, such as translocations, and for biological dosimetry. Methods and prenatal test kits are provided to stain targeted chromosomal material of fetal cells, including fetal cells obtained from maternal blood. The invention provides for automated means to detect and analyze chromosomal abnormalities. 17 figs.

Chromosome specific repetitive DNA sequences

DOEpatents

Moyzis, Robert K.; Meyne, Julianne

1991-01-01

A method is provided for determining specific nucleotide sequences useful in forming a probe which can identify specific chromosomes, preferably through in situ hybridization within the cell itself. In one embodiment, chromosome preferential nucleotide sequences are first determined from a library of recombinant DNA clones having families of repetitive sequences. Library clones are identified with a low homology with a sequence of repetitive DNA families to which the first clones respectively belong and variant sequences are then identified by selecting clones having a pattern of hybridization with genomic DNA dissimilar to the hybridization pattern shown by the respective families. In another embodiment, variant sequences are selected from a sequence of a known repetitive DNA family. The selected variant sequence is classified as chromosome specific, chromosome preferential, or chromosome nonspecific. Sequences which are classified as chromosome preferential are further sequenced and regions are identified having a low homology with other regions of the chromosome preferential sequence or with known sequences of other family me This invention is the result of a contract with the Department of Energy (Contract No. W-7405-ENG-36).

Sequential cloning of chromosomes

DOEpatents

Lacks, S.A.

1995-07-18

A method for sequential cloning of chromosomal DNA of a target organism is disclosed. A first DNA segment homologous to the chromosomal DNA to be sequentially cloned is isolated. The first segment has a first restriction enzyme site on either side. A first vector product is formed by ligating the homologous segment into a suitably designed vector. The first vector product is circularly integrated into the target organism`s chromosomal DNA. The resulting integrated chromosomal DNA segment includes the homologous DNA segment at either end of the integrated vector segment. The integrated chromosomal DNA is cleaved with a second restriction enzyme and ligated to form a vector-containing plasmid, which is replicated in a host organism. The replicated plasmid is then cleaved with the first restriction enzyme. Next, a DNA segment containing the vector and a segment of DNA homologous to a distal portion of the previously isolated DNA segment is isolated. This segment is then ligated to form a plasmid which is replicated within a suitable host. This plasmid is then circularly integrated into the target chromosomal DNA. The chromosomal DNA containing the circularly integrated vector is treated with a third, retrorestriction (class IIS) enzyme. The cleaved DNA is ligated to give a plasmid that is used to transform a host permissive for replication of its vector. The sequential cloning process continues by repeated cycles of circular integration and excision. The excision is carried out alternately with the second and third enzymes. 9 figs.

Sequential cloning of chromosomes

DOEpatents

Lacks, Sanford A.

1995-07-18

A method for sequential cloning of chromosomal DNA of a target organism is disclosed. A first DNA segment homologous to the chromosomal DNA to be sequentially cloned is isolated. The first segment has a first restriction enzyme site on either side. A first vector product is formed by ligating the homologous segment into a suitably designed vector. The first vector product is circularly integrated into the target organism's chromosomal DNA. The resulting integrated chromosomal DNA segment includes the homologous DNA segment at either end of the integrated vector segment. The integrated chromosomal DNA is cleaved with a second restriction enzyme and ligated to form a vector-containing plasmid, which is replicated in a host organism. The replicated plasmid is then cleaved with the first restriction enzyme. Next, a DNA segment containing the vector and a segment of DNA homologous to a distal portion of the previously isolated DNA segment is isolated. This segment is then ligated to form a plasmid which is replicated within a suitable host. This plasmid is then circularly integrated into the target chromosomal DNA. The chromosomal DNA containing the circularly integrated vector is treated with a third, retrorestriction (class IIS) enzyme. The cleaved DNA is ligated to give a plasmid that is used to transform a host permissive for replication of its vector. The sequential cloning process continues by repeated cycles of circular integration and excision. The excision is carried out alternately with the second and third enzymes.

Cryptic mosaicism involving a second chromosome X in patients with Turner syndrome.

PubMed

Araújo, A; Ramos, E S

2008-05-01

The high abortion rate of 45,X embryos indicates that patients with Turner syndrome and 45,X karyotype could be mosaics, in at least one phase of embryo development or cellular lineage, due to the need for the other sex chromosome presence for conceptus to be compatible with life. In cases of structural chromosomal aberrations or hidden mosaicism, conventional cytogenetic techniques can be ineffective and molecular investigation is indicated. Two hundred and fifty patients with Turner syndrome stigmata were studied and 36 who had female genitalia and had been cytogenetically diagnosed as having "pure" 45,X karyotype were selected after 100 metaphases were analyzed in order to exclude mosaicism and the presence of genomic Y-specific sequences (SRY, TSPY, and DAZ) was excluded by PCR. Genomic DNA was extracted from peripheral blood and screened by the human androgen receptor (HUMARA) assay. The HUMARA gene has a polymorphic CAG repeat and, in the presence of a second chromosome with a different HUMARA allele, a second band will be amplified by PCR. Additionally, the CAG repeats contain two methylation-sensitive HpaII enzyme restriction sites, which can be used to verify skewed inactivation. Twenty-five percent (9/36) of the cases showed a cryptic mosaicism involving a second X and approximately 14% (5/36), or 55% (5/9) of the patients with cryptic mosaicism, also presented skewed inactivation. The laboratory identification of the second X chromosome and its inactivation pattern are important for the clinical management (hormone replacement therapy, and inclusion in an oocyte donation program) and prognostic counseling of patients with Turner syndrome.

Unique sex chromosome systems in Ellobius: How do male XX chromosomes recombine and undergo pachytene chromatin inactivation?

PubMed

Matveevsky, Sergey; Bakloushinskaya, Irina; Kolomiets, Oxana

2016-07-18

Most mammalian species have heteromorphic sex chromosomes in males, except for a few enigmatic groups such as the mole voles Ellobius, which do not have the Y chromosome and Sry gene. The Ellobius (XX ♀♂) system of sex chromosomes has no analogues among other animals. The structure and meiotic behaviour of the two X chromosomes were investigated for males of the sibling species Ellobius talpinus and Ellobius tancrei. Their sex chromosomes, despite their identical G-structure, demonstrate short synaptic fragments and crossover-associated MLH1 foci in both telomeric regions only. The chromatin undergoes modifications in the meiotic sex chromosomes. SUMO-1 marks a small nucleolus-like body of the meiotic XX. ATR and ubiH2A are localized in the asynaptic area and the histone γH2AFX covers the entire XX bivalent. The distribution of some markers of chromatin inactivation differentiates sex chromosomes of mole voles from those of other mammals. Sex chromosomes of both studied species have identical recombination and meiotic inactivation patterns. In Ellobius, similar chromosome morphology masks the functional heteromorphism of the male sex chromosomes, which can be seen at meiosis.

Unique sex chromosome systems in Ellobius: How do male XX chromosomes recombine and undergo pachytene chromatin inactivation?

PubMed Central

Matveevsky, Sergey; Bakloushinskaya, Irina; Kolomiets, Oxana

2016-01-01

Most mammalian species have heteromorphic sex chromosomes in males, except for a few enigmatic groups such as the mole voles Ellobius, which do not have the Y chromosome and Sry gene. The Ellobius (XX ♀♂) system of sex chromosomes has no analogues among other animals. The structure and meiotic behaviour of the two X chromosomes were investigated for males of the sibling species Ellobius talpinus and Ellobius tancrei. Their sex chromosomes, despite their identical G-structure, demonstrate short synaptic fragments and crossover-associated MLH1 foci in both telomeric regions only. The chromatin undergoes modifications in the meiotic sex chromosomes. SUMO-1 marks a small nucleolus-like body of the meiotic XX. ATR and ubiH2A are localized in the asynaptic area and the histone γH2AFX covers the entire XX bivalent. The distribution of some markers of chromatin inactivation differentiates sex chromosomes of mole voles from those of other mammals. Sex chromosomes of both studied species have identical recombination and meiotic inactivation patterns. In Ellobius, similar chromosome morphology masks the functional heteromorphism of the male sex chromosomes, which can be seen at meiosis. PMID:27425629

Technology in the Service of Creativity: Computer Assisted Writing Project--Stetson Middle School, Philadelphia, Pennsylvania. Final Report.

ERIC Educational Resources Information Center

Bender, Evelyn

The American Library Association's Carroll Preston Baber Research Award supported this project on the use, impact and feasibility of a computer assisted writing facility located in the library of Stetson Middle School in Philadelphia, an inner city school with a population of minority, "at risk" students. The writing facility consisted…

Sequencing papaya X and Yh chromosomes reveals molecular basis of incipient sex chromosome evolution

PubMed Central

Wang, Jianping; Na, Jong-Kuk; Yu, Qingyi; Gschwend, Andrea R.; Han, Jennifer; Zeng, Fanchang; Aryal, Rishi; VanBuren, Robert; Murray, Jan E.; Zhang, Wenli; Navajas-Pérez, Rafael; Feltus, F. Alex; Lemke, Cornelia; Tong, Eric J.; Chen, Cuixia; Man Wai, Ching; Singh, Ratnesh; Wang, Ming-Li; Min, Xiang Jia; Alam, Maqsudul; Charlesworth, Deborah; Moore, Paul H.; Jiang, Jiming; Paterson, Andrew H.; Ming, Ray

2012-01-01

Sex determination in papaya is controlled by a recently evolved XY chromosome pair, with two slightly different Y chromosomes controlling the development of males (Y) and hermaphrodites (Yh). To study the events of early sex chromosome evolution, we sequenced the hermaphrodite-specific region of the Yh chromosome (HSY) and its X counterpart, yielding an 8.1-megabase (Mb) HSY pseudomolecule, and a 3.5-Mb sequence for the corresponding X region. The HSY is larger than the X region, mostly due to retrotransposon insertions. The papaya HSY differs from the X region by two large-scale inversions, the first of which likely caused the recombination suppression between the X and Yh chromosomes, followed by numerous additional chromosomal rearrangements. Altogether, including the X and/or HSY regions, 124 transcription units were annotated, including 50 functional pairs present in both the X and HSY. Ten HSY genes had functional homologs elsewhere in the papaya autosomal regions, suggesting movement of genes onto the HSY, whereas the X region had none. Sequence divergence between 70 transcripts shared by the X and HSY revealed two evolutionary strata in the X chromosome, corresponding to the two inversions on the HSY, the older of which evolved about 7.0 million years ago. Gene content differences between the HSY and X are greatest in the older stratum, whereas the gene content and order of the collinear regions are identical. Our findings support theoretical models of early sex chromosome evolution. PMID:22869747

Sequencing papaya X and Yh chromosomes reveals molecular basis of incipient sex chromosome evolution.

PubMed

Wang, Jianping; Na, Jong-Kuk; Yu, Qingyi; Gschwend, Andrea R; Han, Jennifer; Zeng, Fanchang; Aryal, Rishi; VanBuren, Robert; Murray, Jan E; Zhang, Wenli; Navajas-Pérez, Rafael; Feltus, F Alex; Lemke, Cornelia; Tong, Eric J; Chen, Cuixia; Wai, Ching Man; Singh, Ratnesh; Wang, Ming-Li; Min, Xiang Jia; Alam, Maqsudul; Charlesworth, Deborah; Moore, Paul H; Jiang, Jiming; Paterson, Andrew H; Ming, Ray

2012-08-21

Sex determination in papaya is controlled by a recently evolved XY chromosome pair, with two slightly different Y chromosomes controlling the development of males (Y) and hermaphrodites (Y(h)). To study the events of early sex chromosome evolution, we sequenced the hermaphrodite-specific region of the Y(h) chromosome (HSY) and its X counterpart, yielding an 8.1-megabase (Mb) HSY pseudomolecule, and a 3.5-Mb sequence for the corresponding X region. The HSY is larger than the X region, mostly due to retrotransposon insertions. The papaya HSY differs from the X region by two large-scale inversions, the first of which likely caused the recombination suppression between the X and Y(h) chromosomes, followed by numerous additional chromosomal rearrangements. Altogether, including the X and/or HSY regions, 124 transcription units were annotated, including 50 functional pairs present in both the X and HSY. Ten HSY genes had functional homologs elsewhere in the papaya autosomal regions, suggesting movement of genes onto the HSY, whereas the X region had none. Sequence divergence between 70 transcripts shared by the X and HSY revealed two evolutionary strata in the X chromosome, corresponding to the two inversions on the HSY, the older of which evolved about 7.0 million years ago. Gene content differences between the HSY and X are greatest in the older stratum, whereas the gene content and order of the collinear regions are identical. Our findings support theoretical models of early sex chromosome evolution.

The Chromosome Microdissection and Microcloning Technique.

PubMed

Zhang, Ying-Xin; Deng, Chuan-Liang; Hu, Zan-Min

2016-01-01

Chromosome microdissection followed by microcloning is an efficient tool combining cytogenetics and molecular genetics that can be used for the construction of the high density molecular marker linkage map and fine physical map, the generation of probes for chromosome painting, and the localization and cloning of important genes. Here, we describe a modified technique to microdissect a single chromosome, paint individual chromosomes, and construct single-chromosome DNA libraries.

Designing Interactive Courseware: Creating an Electronic Edition of the Notes of Debates in the Philadelphia Convention of 1787.

ERIC Educational Resources Information Center

Schick, James B. M.

2002-01-01

Describes the educational philosophy and decisions that shaped development of an electronic reader's edition of James Madison's notes on the debates of the Philadelphia Convention of 1787. Discusses the role of hypermedia in history instruction. %Illustrates and explains the design of the resource. (PAL)

[Chromosome examination of missed abortion patients].

PubMed

Hu, Haomei; Yang, Hua; Yin, Zhenhui; Zhao, Lu

2015-09-15

To investigate the relationship between the missed abortion and chromosome abnormality and guide the healthy birth. From June 2014 to April 2015 in Tianjin central hospital of gynecology and obstetrics, we examined venous blood from 90 missed abortion couples for chromosome karyotype by lymphocyte culture method and we also examined their chromosome karyotype of abortion villus samples by high-throughput sequencing technologies. Out of the 90 couples' blood chromosome examinations, 7 were abnormal, and the abnormal rate was 3.89%, including 3 cases reciprocal translocation, 2 cases robertsonian translocation and 2 cases inversion. Abortion villus samples from the same population were also checked, of which 85 cases succeeded, with the success rate of 94.4%. Among them, villi chromosome abnormalities were found in 50 cases, including 39 cases with abnormal chromosome numbers, 11 cases with abnormal chromosome structure, and the total abnormal rate was 58.8%. In addition, the villi chromosome abnormality rate of patients with recurrent missed abortion (≥2 times) and first missed abortion were 61.7% and 55.2%, respectively, and the difference was not significant (P>0.05). The villi chromosome abnormality rate of pregnant women with age≥35 years old was 71.1%, while the pregnant women with aged <35 years old was 45% (P<0.05). Chromosome abnormality is an important cause of missed abortion; villi chromosome abnormality rate has nothing to do with the number of missed abortion; pregnant woman with age≥35 years old is risk factor of the villi chromosome abnormality.

Four chromosome-specific (Gossypium barbadense chromosome 5sh) Upland cotton RILs with improved elongation

USDA-ARS?s Scientific Manuscript database

A chromosome specific recombinant inbred line (CS-B05shRIL) population was created from a cross of TM-1, the genetic standard line of Gossypium hirsutum L. and CS-B05sh, a previously released interspecific chromosome substitution line in which all of the chromosome pairs are genetically similar to T...

X Chromosome Evolution in Cetartiodactyla

PubMed Central

Proskuryakova, Anastasia A.; Kulemzina, Anastasia I.; Makunin, Alexey I.; Kukekova, Anna V.; Lynn Johnson, Jennifer; Lemskaya, Natalya A.; Beklemisheva, Violetta R.; Roelke-Parker, Melody E.; Bellizzi, June; Ryder, Oliver A.; O’Brien, Stephen J.; Graphodatsky, Alexander S.

2017-01-01

The phenomenon of a remarkable conservation of the X chromosome in eutherian mammals has been first described by Susumu Ohno in 1964. A notable exception is the cetartiodactyl X chromosome, which varies widely in morphology and G-banding pattern between species. It is hypothesized that this sex chromosome has undergone multiple rearrangements that changed the centromere position and the order of syntenic segments over the last 80 million years of Cetartiodactyla speciation. To investigate its evolution we have selected 26 evolutionarily conserved bacterial artificial chromosome (BAC) clones from the cattle CHORI-240 library evenly distributed along the cattle X chromosome. High-resolution BAC maps of the X chromosome on a representative range of cetartiodactyl species from different branches: pig (Suidae), alpaca (Camelidae), gray whale (Cetacea), hippopotamus (Hippopotamidae), Java mouse-deer (Tragulidae), pronghorn (Antilocapridae), Siberian musk deer (Moschidae), and giraffe (Giraffidae) were obtained by fluorescent in situ hybridization. To trace the X chromosome evolution during fast radiation in specious families, we performed mapping in several cervids (moose, Siberian roe deer, fallow deer, and Pere David’s deer) and bovid (muskox, goat, sheep, sable antelope, and cattle) species. We have identified three major conserved synteny blocks and rearrangements in different cetartiodactyl lineages and found that the recently described phenomenon of the evolutionary new centromere emergence has taken place in the X chromosome evolution of Cetartiodactyla at least five times. We propose the structure of the putative ancestral cetartiodactyl X chromosome by reconstructing the order of syntenic segments and centromere position for key groups. PMID:28858207

Flow karyotyping and sorting of human chromosomes

DOE Office of Scientific and Technical Information (OSTI.GOV)

Gray, J.W.; Lucas, J.; Peters, D.

1986-07-16

Flow cytometry and sorting are becoming increasingly useful as tools for chromosome classfication and for the detection of numerical and structural chromosome aberrations. Chromosomes of a single type can be purified with these tools to facilitate gene mapping or production of chromosome specific recombinant DNA libraries. For analysis of chromosomes with flow cytometry, the chromosomes are extracted from mitotic cells, stained with one or more fluorescent dyes and classified one-by-one according to their dye content(s). Thus, the flow approach is fundamentally different than conventional karyotyping where chromosomes are classified within the context of a metaphase spread. Flow sorting allows purificationmore » of chromosomes that can be distinguished flow cytometrically. The authors describe the basic principles of flow cytometric chromosome classification i.e. flow karyotyping, and chromosome sorting and describe several applications. 30 refs., 8 figs.« less

Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?

PubMed Central

Trifonov, Vladimir; Fluri, Simon; Binkert, Franz; Nandini, Adayapalam; Anderson, Jasen; Rodriguez, Laura; Gross, Madeleine; Kosyakova, Nadezda; Mkrtchyan, Hasmik; Ewers, Elisabeth; Reich, Daniela; Weise, Anja; Liehr, Thomas

2008-01-01

Background Small supernumerary marker chromosomes (sSMC) are present ~2.6 × 106 human worldwide. sSMC are a heterogeneous group of derivative chromosomes concerning their clinical consequences as well as their chromosomal origin and shape. Besides the sSMC present in Emanuel syndrome, i.e. der(22)t(11;22)(q23;q11), only few so-called complex sSMC are reported. Results Here we report three new cases of unique complex sSMC. One was a de novo case with a dic(13 or 21;22) and two were maternally derived: a der(18)t(8;18) and a der(13 or 21)t(13 or 21;18). Thus, in summary, now 22 cases of unique complex sSMC are available in the literature. However, this special kind of sSMC might be under-diagnosed among sSMC-carriers. Conclusion More comprehensive characterization of sSMC and approaches like reverse fluorescence in situ hybridization (FISH) or array based comparative genomic hybridization (array-CGH) might identify them to be more frequent than only ~0.9% among all sSMC. PMID:18471318

Leukemia in children: getting back to school-part 1.

PubMed

Wessler, Jacob M

2015-03-01

Cancer is the leading cause of death by disease past infancy. In 2014, nearly 16,000 children and adolescents 0 to 19 years of age will be diagnosed with cancer in the United States. More than 80% of those children will survive at least 5 years after their diagnosis. Much of the increase in survival has been seen in children diagnosed with acute lymphoblastic leukemia (ALL). Once cancer treatment ends, the real battle begins. Getting back to school helps cancer patients return to normal. Part 1 is a brief review of the diagnosis, prognosis, and treatment of ALL in children and adolescents with an introduction to Philadelphia chromosome positive ALL and is written in language that makes it ideal for use in teaching school personnel and other parents about ALL. Part 2 is a reflection of Abby Furco's transition to school after being diagnosed with this type of leukemia at 4 1/2 years of age. The accommodations and strategies employed for this student are likely to be useful and adaptable to assist other families and school communities as they work with children entering school with physical challenges. © 2015 The Author(s).

Ten-Year Secular Trends in Youth Violence: Results from the Philadelphia Youth Risk Behavior Survey 2003-2013

ERIC Educational Resources Information Center

Pool, Andrew C.; Patterson, Freda; Luna, Ingrid Y.; Hohl, Bernadette; Bauer, Katherine W.

2017-01-01

Background: Youth violence reduction is a public health priority, yet few studies have examined secular trends in violence among urban youth, who may be particularly vulnerable to numerous forms of violence. This study examines 10-year secular trends in the prevalence of violence-related behaviors among Philadelphia high school students. Methods:…

33 CFR 165.T05-0495 - Safety Zone, Sugar House Casino Fireworks Display, Delaware River; Philadelphia, PA.

Code of Federal Regulations, 2014 CFR

2014-07-01

... 33 Navigation and Navigable Waters 2 2014-07-01 2014-07-01 false Safety Zone, Sugar House Casino Fireworks Display, Delaware River; Philadelphia, PA. 165.T05-0495 Section 165.T05-0495 Navigation and... Areas Fifth Coast Guard District § 165.T05-0495 Safety Zone, Sugar House Casino Fireworks Display...

Correlates to Human Papillomavirus Vaccination Status and Willingness to Vaccinate in Low-Income Philadelphia High School Students

ERIC Educational Resources Information Center

Bass, Sarah B.; Leader, Amy; Shwarz, Michelle; Greener, Judith; Patterson, Freda

2015-01-01

Background: Little is known about the correlates of human papillomavirus (HPV) vaccination or willingness to be vaccinated in urban, minority adolescents. Methods: Using responses to the 2013 Youth Risk Behavior Survey in Philadelphia, a random sample of high schools provided weighted data representing 20,941 9th to 12th graders. Stratified by…

Computational model for chromosomal instabilty

NASA Astrophysics Data System (ADS)

Zapperi, Stefano; Bertalan, Zsolt; Budrikis, Zoe; La Porta, Caterina

2015-03-01

Faithful segregation of genetic material during cell division requires alignment of the chromosomes between the spindle poles and attachment of their kinetochores to each of the poles. Failure of these complex dynamical processes leads to chromosomal instability (CIN), a characteristic feature of several diseases including cancer. While a multitude of biological factors regulating chromosome congression and bi-orientation have been identified, it is still unclear how they are integrated into a coherent picture. Here we address this issue by a three dimensional computational model of motor-driven chromosome congression and bi-orientation. Our model reveals that successful cell division requires control of the total number of microtubules: if this number is too small bi-orientation fails, while if it is too large not all the chromosomes are able to congress. The optimal number of microtubules predicted by our model compares well with early observations in mammalian cell spindles. Our results shed new light on the origin of several pathological conditions related to chromosomal instability.

Sex chromosomes in land plants.

PubMed

Ming, Ray; Bendahmane, Abdelhafid; Renner, Susanne S

2011-01-01

Sex chromosomes in land plants can evolve as a consequence of close linkage between the two sex determination genes with complementary dominance required to establish stable dioecious populations, and they are found in at least 48 species across 20 families. The sex chromosomes in hepatics, mosses, and gymnosperms are morphologically heteromorphic. In angiosperms, heteromorphic sex chromosomes are found in at least 19 species from 4 families, while homomorphic sex chromosomes occur in 20 species from 13 families. The prevalence of the XY system found in 44 out of 48 species may reflect the predominance of the evolutionary pathway from gynodioecy towards dioecy. All dioecious species have the potential to evolve sex chromosomes, and reversions back from dioecy to various forms of monoecy, gynodioecy, or androdioecy have also occurred. Such reversals may occur especially during the early stages of sex chromosome evolution before the lethality of the YY (or WW) genotype is established.

Micromechanical study of mitotic chromosome structure

NASA Astrophysics Data System (ADS)

Marko, John

2011-03-01

Our group has developed micromanipulation techniques for study of the highly compacted mitotic form of chromosome found in eukaryote cells during cell division. Each metaphase chromosome contains two duplicate centimeter-long DNA molecules, folded up by proteins into cylindrical structures several microns in length. Native chromosomes display linear and reversible stretching behavior over a wide range of extensions (up to 5x native length for amphibian chromosomes), described by a Young modulus of about 300 Pa. Studies using DNA-cutting and protein-cutting enzymes have revealed that metaphase chromosomes behave as a network of chromatin fibers held together by protein-based isolated crosslinks. Our results are not consistent with the more classical model of loops of chromatin attached to a protein-based structural organizer or ``scaffold". In short, our experiments indicate that metaphase chromosomes can be considered to be ``gels" of chromatin; the stretching modulus of a whole chromosome is consistent with stretching of the chromatin fibers contained within it. Experiments using topoisomerases suggest that topological constraints may play an appreciable role in confining chromatin in the metaphase chromosome. Finally, recent experiments on human chromosomes will be reviewed, including results of experiments where chromosome-folding proteins are specifically depleted using siRNA methods. Supported by NSF-MCB-1022117, DMR-0715099, PHY-0852130, DMR-0520513, NCI 1U54CA143869-01 (NU-PS-OC), and the American Heart Association.

3-D Scanning of Headstones at the U.S. Naval Plot, Mount Moriah Cemetery, Philadelphia, PA

DTIC Science & Technology

2017-11-17

unrecognizable because these monuments of history provide a record of the heroes who served this country with honor and distinction. The naval plot at Mount...Eventually, 1 History of Philadelphia, 1609-1884, by John Thomas Scharf and Thompson...digital imaging requires natural or artificial light to work effec- tively. The point cloud is the most important aspect of this technology for

B chromosomes are associated with redistribution of genetic recombination towards lower recombination chromosomal regions in perennial ryegrass.

PubMed

Harper, John; Phillips, Dylan; Thomas, Ann; Gasior, Dagmara; Evans, Caron; Powell, Wayne; King, Julie; King, Ian; Jenkins, Glyn; Armstead, Ian

2018-04-09

Supernumerary 'B' chromosomes are non-essential components of the genome present in a range of plant and animal species-including many grasses. Within diploid and polyploid ryegrass and fescue species, including the forage grass perennial ryegrass (Lolium perenne L.), the presence of B chromosomes has been reported as influencing both chromosome pairing and chiasma frequencies. In this study, the effects of the presence/absence of B chromosomes on genetic recombination has been investigated through generating DArT (Diversity Arrays Technology) marker genetic maps for six perennial ryegrass diploid populations, the pollen parents of which contained either two B or zero B chromosomes. Through genetic and cytological analyses of these progeny and their parents, we have identified that, while overall cytological estimates of chiasma frequencies were significantly lower in pollen mother cells with two B chromosomes as compared with zero B chromosomes, the recombination frequencies within some marker intervals were actually increased, particularly for marker intervals in lower recombination regions of chromosomes, namely pericentromeric regions. Thus, in perennial ryegrass, the presence of two B chromosomes redistributed patterns of meiotic recombination in pollen mother cells in ways which could increase the range of allelic variation available to plant breeders.

High Frequency and Poor Outcome of Philadelphia Chromosome–Like Acute Lymphoblastic Leukemia in Adults

PubMed Central

Roberts, Kathryn G.; Gu, Zhaohui; Payne-Turner, Debbie; McCastlain, Kelly; Harvey, Richard C.; Chen, I-Ming; Pei, Deqing; Iacobucci, Ilaria; Valentine, Marcus; Pounds, Stanley B.; Shi, Lei; Li, Yongjin; Zhang, Jinghui; Cheng, Cheng; Rambaldi, Alessandro; Tosi, Manuela; Spinelli, Orietta; Radich, Jerald P.; Minden, Mark D.; Rowe, Jacob M.; Luger, Selina; Litzow, Mark R.; Tallman, Martin S.; Wiernik, Peter H.; Bhatia, Ravi; Aldoss, Ibrahim; Kohlschmidt, Jessica; Mrózek, Krzysztof; Marcucci, Guido; Bloomfield, Clara D.; Stock, Wendy; Kornblau, Stephen; Kantarjian, Hagop M.; Konopleva, Marina; Paietta, Elisabeth; Willman, Cheryl L.

2017-01-01

Purpose Philadelphia chromosome (Ph) –like acute lymphoblastic leukemia (ALL) is a high-risk subtype of childhood ALL characterized by kinase-activating alterations that are amenable to treatment with tyrosine kinase inhibitors. We sought to define the prevalence and genomic landscape of Ph-like ALL in adults and assess response to conventional chemotherapy. Patients and Methods The frequency of Ph-like ALL was assessed by gene expression profiling of 798 patients with B-cell ALL age 21 to 86 years. Event-free survival and overall survival were determined for Ph-like ALL versus non–Ph-like ALL patients. Detailed genomic analysis was performed on 180 of 194 patients with Ph-like ALL. Results Patients with Ph-like ALL accounted for more than 20% of adults with ALL, including 27.9% of young adults (age 21 to 39 years), 20.4% of adults (age 40 to 59 years), and 24.0% of older adults (age 60 to 86 years). Overall, patients with Ph-like ALL had an inferior 5-year event-free survival compared with patients with non–Ph-like ALL (22.5% [95% CI, 14.9% to 29.3%; n = 155] v 49.3% [95% CI, 42.8% to 56.2%; n = 247], respectively; P < .001). We identified kinase-activating alterations in 88% of patients with Ph-like ALL, including CRLF2 rearrangements (51%), ABL class fusions (9.8%), JAK2 or EPOR rearrangements (12.4%), other JAK-STAT sequence mutations (7.2%), other kinase alterations (4.1%), and Ras pathway mutations (3.6%). Eleven new kinase rearrangements were identified, including four involving new kinase or cytokine receptor genes and seven involving new partners for previously identified genes. Conclusion Ph-like ALL is a highly prevalent subtype of ALL in adults and is associated with poor outcome. The diverse range of kinase-activating alterations in Ph-like ALL has important therapeutic implications. Trials comparing the addition of tyrosine kinase inhibitors to conventional therapy are required to evaluate the clinical utility of these agents in the treatment of

Non-random Mis-segregation of Human Chromosomes.

PubMed

Worrall, Joseph Thomas; Tamura, Naoka; Mazzagatti, Alice; Shaikh, Nadeem; van Lingen, Tineke; Bakker, Bjorn; Spierings, Diana Carolina Johanna; Vladimirou, Elina; Foijer, Floris; McClelland, Sarah Elizabeth

2018-06-12

A common assumption is that human chromosomes carry equal chances of mis-segregation during compromised cell division. Human chromosomes vary in multiple parameters that might generate bias, but technological limitations have precluded a comprehensive analysis of chromosome-specific aneuploidy. Here, by imaging specific centromeres coupled with high-throughput single-cell analysis as well as single-cell sequencing, we show that aneuploidy occurs non-randomly following common treatments to elevate chromosome mis-segregation. Temporary spindle disruption leads to elevated mis-segregation and aneuploidy of a subset of chromosomes, particularly affecting chromosomes 1 and 2. Unexpectedly, we find that a period of mitotic delay weakens centromeric cohesion and promotes chromosome mis-segregation and that chromosomes 1 and 2 are particularly prone to suffer cohesion fatigue. Our findings demonstrate that inherent properties of individual chromosomes can bias chromosome mis-segregation and aneuploidy rates, with implications for studies on aneuploidy in human disease. Copyright © 2018 The Author(s). Published by Elsevier Inc. All rights reserved.

HIM-8 binds to the X chromosome pairing center and mediates chromosome-specific meiotic synapsis.

PubMed

Phillips, Carolyn M; Wong, Chihunt; Bhalla, Needhi; Carlton, Peter M; Weiser, Pinky; Meneely, Philip M; Dernburg, Abby F

2005-12-16

The him-8 gene is essential for proper meiotic segregation of the X chromosomes in C. elegans. Here we show that loss of him-8 function causes profound X chromosome-specific defects in homolog pairing and synapsis. him-8 encodes a C2H2 zinc-finger protein that is expressed during meiosis and concentrates at a site on the X chromosome known as the meiotic pairing center (PC). A role for HIM-8 in PC function is supported by genetic interactions between PC lesions and him-8 mutations. HIM-8 bound chromosome sites associate with the nuclear envelope (NE) throughout meiotic prophase. Surprisingly, a point mutation in him-8 that retains both chromosome binding and NE localization fails to stabilize pairing or promote synapsis. These observations indicate that stabilization of homolog pairing is an active process in which the tethering of chromosome sites to the NE may be necessary but is not sufficient.

Chromosomal rearrangements and karyotype evolution in carnivores revealed by chromosome painting

PubMed Central

Nie, W; Wang, J; Su, W; Wang, D; Tanomtong, A; Perelman, P L; Graphodatsky, A S; Yang, F

2012-01-01

Chromosomal evolution in carnivores has been revisited extensively using cross-species chromosome painting. Painting probes derived from flow-sorted chromosomes of the domestic dog, which has one of the most rearranged karyotypes in mammals and the highest dipoid number (2n=78) in carnivores, are a powerful tool in detecting both evolutionary intra- and inter-chromosomal rearrangements. However, only a few comparative maps have been established between dog and other non-Canidae species. Here, we extended cross-species painting with dog probes to seven more species representing six carnivore families: Eurasian lynx (Lynx lynx), the stone marten (Martes foina), the small Indian civet (Viverricula indica), the Asian palm civet (Paradoxurus hermaphrodites), Javan mongoose (Hepestes javanicas), the raccoon (Procyon lotor) and the giant panda (Ailuropoda melanoleuca). The numbers and positions of intra-chromosomal rearrangements were found to differ among these carnivore species. A comparative map between human and stone marten, and a map among the Yangtze finless porpoise (Neophocaena phocaenoides asiaeorientalis), stone marten and human were also established to facilitate outgroup comparison and to integrate comparative maps between stone marten and other carnivores with such maps between human and other species. These comparative maps give further insight into genome evolution and karyotype phylogenetic relationships among carnivores, and will facilitate the transfer of gene mapping data from human, domestic dog and cat to other species. PMID:22086079

Statistics for X-chromosome associations.

PubMed

Özbek, Umut; Lin, Hui-Min; Lin, Yan; Weeks, Daniel E; Chen, Wei; Shaffer, John R; Purcell, Shaun M; Feingold, Eleanor

2018-06-13

In a genome-wide association study (GWAS), association between genotype and phenotype at autosomal loci is generally tested by regression models. However, X-chromosome data are often excluded from published analyses of autosomes because of the difference between males and females in number of X chromosomes. Failure to analyze X-chromosome data at all is obviously less than ideal, and can lead to missed discoveries. Even when X-chromosome data are included, they are often analyzed with suboptimal statistics. Several mathematically sensible statistics for X-chromosome association have been proposed. The optimality of these statistics, however, is based on very specific simple genetic models. In addition, while previous simulation studies of these statistics have been informative, they have focused on single-marker tests and have not considered the types of error that occur even under the null hypothesis when the entire X chromosome is scanned. In this study, we comprehensively tested several X-chromosome association statistics using simulation studies that include the entire chromosome. We also considered a wide range of trait models for sex differences and phenotypic effects of X inactivation. We found that models that do not incorporate a sex effect can have large type I error in some cases. We also found that many of the best statistics perform well even when there are modest deviations, such as trait variance differences between the sexes or small sex differences in allele frequencies, from assumptions. © 2018 WILEY PERIODICALS, INC.

Screening for specific chromosome involvement in hematological malignancies using a set of seven chromosome painting probes. An alternative approach for chromosome analysis using standard FISH instrumentation.

PubMed

Nacheva, E P; Gribble, S; Andrews, K; Wienberg, J; Grace, C D

2000-10-15

We report the application of multi-color fluorescence in situ hydribidization (FISH) for bone marrow metaphase cell analysis of hematological malignancies using a sub-set of the human karyotype for chromosome painting. A combination of chromosome probes labeled with three haptens enabled the construction of a "painting probe" which detects seven different chromosomes. The probe was used to screen three chronic myeloid leukemia (CML) derived cell lines and ten CML patient bone marrow samples for aberrations, additional to the Ph rearrangement, that are associated with the onset of blast crisis of CML. This approach was shown to identify karyotype changes commonly seen by conventional karyotyping, and in addition revealed chromosome changes unresolved or undetected by conventional cytogenetic analysis. The seven-color painting probe provides a useful, fast, and reliable complementary tool for chromosome analysis, especially in cases with poor chromosome morphology. This is a simple approach, since the probes can be displayed in a standard red/green/blue format accessible to standard fluorescence microscopes and image-processing software. The proposed approach using panels of locus-specific probes as well as chromosome paints will be useful in all diagnostic routine environments where analysis is directed towards screening for genetic rearrangements and/or specific patterns of chromosome involvement with diagnostic/prognostic value.

The Philadelphia Neurodevelopmental Cohort: constructing a deep phenotyping collaborative

PubMed Central

Calkins, Monica E.; Merikangas, Kathleen R.; Moore, Tyler M.; Burstein, Marcy; Behr, Meckenzie A; Satterthwaite, Theodore D.; Ruparel, Kosha; Wolf, Daniel H.; Roalf, David R.; Mentch, Frank D.; Qiu, Haijun; Chiavacci, Rosetta; Connolly, John J.; Sleiman, Patrick M.A.; Gur, Ruben C.

2015-01-01

Background An integrative multidisciplinary approach is required to elucidate the multiple factors that shape neurodevelopmental trajectories of mental disorders. The Philadelphia Neurodevelopmental Cohort (PNC), funded by the National Institute of Mental Health Grand Opportunity (GO) mechanism of the American Recovery and Reinvestment Act, was designed to characterize clinical and neurobehavioral phenotypes of genotyped youths. Data generated, which are recently available through the NIMH Database of Genotypes and Phenotypes (dbGaP), have garnered considerable interest. We provide an overview of PNC recruitment and clinical assessment methods to allow informed use and interpretation of the PNC resource by the scientific community. We also evaluate the structure of the assessment tools and their criterion validity. Methods Participants were recruited from a large pool of youths (n=13,958) previously identified and genotyped at The Children's Hospital of Philadelphia. A comprehensive computerized tool for structured evaluation of psychopathology domains (GOASSESS) was constructed. We administered GOASSESS to all participants and used factor analysis to evaluate its structure. Results A total of 9,498 youths (ages 8-21; mean age=14.2; European-American=55.8%; African-American=32.9%; Other=11.4%) were enrolled. Factor analysis revealed a strong general psychopathology factor, and specific ‘anxious-misery’, ‘fear’ and ‘behavior’ factors. The ‘behavior’ factor had a small negative correlation (−0.21) with overall accuracy of neurocognitive performance, particularly in tests of executive and complex reasoning. Being female had a high association with the ‘anxious-misery’ and low association with the ‘behavior’ factors. The psychosis spectrum was also best characterized by a general factor and three specific factors: ideas about ‘special abilities/persecution,’ ‘unusual thoughts/perceptions,’ and ‘negative/disorganized’ symptoms

The Accountability System: Defining Responsibility for Student Achievement. Children Achieving: Philadelphia's Education Reform. Progress Report Series 1996-1997.

ERIC Educational Resources Information Center

Luhm, Theresa; Foley, Ellen; Corcoran, Tom

This report explores issues related to accountability in the context of Children Achieving, the school reform effort of Philadelphia (Pennsylvania). The accountability system begins with content standards in English/language arts, mathematics, science, and the arts. The Stanford-9 Achievement Test has been designated to assess how students are…

Responding to the recruiting call. How Children's Hospital of Philadelphia seeks healthcare pros.

PubMed

Botvin, J D

2001-01-01

The global shortage of healthcare professionals has touched every healthcare institution, and despite its renown, Children's Hospital of Philadelphia (CHOP) is no exception. In fact, the hospital's strategic addition of suburban facilities has exacerbated the situation. The recruitment plan builds on a strong new image campaign, and sharpens the focus on nurses, student nurses and allied health professionals. Direct mail is used--a first for recruitment at CHOP. The hospital's Web site is used as well as postings on numerous Internet job boards. Finally, the campaign also uses more traditional methods, such as print advertising.

Partial hexasomy of chromosome 15.

PubMed

Huang, Bing; Bartley, James

2003-09-01

Marker chromosomes originating from chromosome 15, often referred to as inv dup(15), is the most common marker chromosome found in humans. The large marker 15 that contains the Prader-Willi syndrome (PWS)/Angelman syndrome (AS) chromosome region is usually associated with an abnormal phenotype of moderate to severe mental retardation, seizures, poor motor coordination, behavioral problems, and mild dysmorphic features. We report here an infant boy with two copies of the large inv dup(15). A 10-day-old infant was found to have infantile spasms, microcephaly, hypotonia, and lethargy. Lymphocyte chromosome analysis revealed a 48,XY, +2mar karyotype. Fluorescence in situ hybridization with probes rRNA, D15Z4, D15S11, and GABRB3 demonstrated that both markers were chromosome 15 in origin and contained the Prader-Willi/Angelman syndrome chromosome region. Therefore, this patient is hexasomic for the PWS/AS region. The phenotype of this patient does not appear to be significantly more severe than patients with one copy of the large inv dup(15) at birth, however, follow-up evaluation of the patient at 21 months of age shows that this patient has frequent and severe seizure activity, severe bilateral hearing loss, and cortical blindness. Copyright 2003 Wiley-Liss, Inc.

Centromere Destiny in Dicentric Chromosomes: New Insights from the Evolution of Human Chromosome 2 Ancestral Centromeric Region.

PubMed

Chiatante, Giorgia; Giannuzzi, Giuliana; Calabrese, Francesco Maria; Eichler, Evan E; Ventura, Mario

2017-07-01

Dicentric chromosomes are products of genomic rearrangements that place two centromeres on the same chromosome. Due to the presence of two primary constrictions, they are inherently unstable and overcome their instability by epigenetically inactivating and/or deleting one of the two centromeres, thus resulting in functionally monocentric chromosomes that segregate normally during cell division. Our understanding to date of dicentric chromosome formation, behavior and fate has been largely inferred from observational studies in plants and humans as well as artificially produced de novo dicentrics in yeast and in human cells. We investigate the most recent product of a chromosome fusion event fixed in the human lineage, human chromosome 2, whose stability was acquired by the suppression of one centromere, resulting in a unique difference in chromosome number between humans (46 chromosomes) and our most closely related ape relatives (48 chromosomes). Using molecular cytogenetics, sequencing, and comparative sequence data, we deeply characterize the relicts of the chromosome 2q ancestral centromere and its flanking regions, gaining insight into the ancestral organization that can be easily broadened to all acrocentric chromosome centromeres. Moreover, our analyses offered the opportunity to trace the evolutionary history of rDNA and satellite III sequences among great apes, thus suggesting a new hypothesis for the preferential inactivation of some human centromeres, including IIq. Our results suggest two possible centromere inactivation models to explain the evolutionarily stabilization of human chromosome 2 over the last 5-6 million years. Our results strongly favor centromere excision through a one-step process. © The Author 2017. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Chromosome Connections: Compelling Clues to Common Ancestry

ERIC Educational Resources Information Center

Flammer, Larry

2013-01-01

Students compare banding patterns on hominid chromosomes and see striking evidence of their common ancestry. To test this, human chromosome no. 2 is matched with two shorter chimpanzee chromosomes, leading to the hypothesis that human chromosome 2 resulted from the fusion of the two shorter chromosomes. Students test that hypothesis by looking for…

Method for obtaining chromosome painting probes

DOEpatents

Lucas, Joe N.

2000-01-01

A method is provided for determining a clastogenic signature of a sample of chromosomes by quantifying a frequency of a first type of chromosome aberration present in the sample; quantifying a frequency of a second, different type of chromosome aberration present in the sample; and comparing the frequency of the first type of chromosome aberration to the frequency of the second type of chromosome aberration. A method is also provided for using that clastogenic signature to identify a clastogenic agent or dosage to which the cells were exposed.

Sex chromosome abnormalities and psychiatric diseases

PubMed Central

Zhang, Xinzhu; Yang, Jian; Li, Yuhong; Ma, Xin; Li, Rena

2017-01-01

Excesses of sex chromosome abnormalities in patients with psychiatric diseases have recently been observed. It remains unclear whether sex chromosome abnormalities are related to sex differences in some psychiatric diseases. While studies showed evidence of susceptibility loci over many sex chromosomal regions related to various mental diseases, others demonstrated that the sex chromosome aneuploidies may be the key to exploring the pathogenesis of psychiatric disease. In this review, we will outline the current evidence on the interaction of sex chromosome abnormalities with schizophrenia, autism, ADHD and mood disorders. PMID:27992373

Linkage group-chromosome correlations in Sordaria macrospora: Chromosome identification by three dimensional reconstruction of their synaptonemal complex.

PubMed

Zickler, D; Leblon, G; Haedens, V; Collard, A; Thuriaux, P

1984-01-01

Reconstruction of serially sectioned zygotene and pachytene nuclei has allowed, by measuring the lengths of synaptonemal complexes, an assignment of the 7 linkage (LG) groups to the 7 chromosomes in the fungus Sordaria macrospora. The 7 LG have been established using 19 mutants showing low second division segregation frequencies. Eight chromosomal rearrangements mapped on the 7 LG were used to identify the chromosomes involved. The following one to one assignment of the 7 LG to specific chromosomes was obtained: LG a: chromosome (chr) 1, LG b: chr5, LG c: chr6, LG d: chr7, LG e: chr4, LG f: chr3 and LG g: chr2 (the chromosome carrying the nucleolus organizer region).

Characterization of a chromosome-specific chimpanzee alpha satellite subset: Evolutionary relationship to subsets on human chromosomes

DOE Office of Scientific and Technical Information (OSTI.GOV)

Warburton, P.E.; Gosden, J.; Lawson, D.

1996-04-15

Alpha satellite DNA is a tandemly repeated DNA family found at the centromeres of all primate chromosomes examined. The fundamental repeat units of alpha satellite DNA are diverged 169- to 172-bp monomers, often found to be organized in chromosome-specific higher-order repeat units. The chromosomes of human (Homo sapiens (HSA)), chimpanzee (Pan troglodytes (PTR) and Pan paniscus), and gorilla (Gorilla gorilla) share a remarkable similarity and synteny. It is of interest to ask if alpha satellite arrays at centromeres of homologous chromosomes between these species are closely related (evolving in an orthologous manner) or if the evolutionary processes that homogenize andmore » spread these arrays within and between chromosomes result in nonorthologous evolution of arrays. By using PCR primers specific for human chromosome 17-specific alpha satellite DNA, we have amplified, cloned, and characterized a chromosome-specific subset from the PTR chimpanzee genome. Hybridization both on Southern blots and in situ as well as sequence analysis show that this subset is most closely related, as expected, to sequences on HSA 17. However, in situ hybridization reveals that this subset is not found on the homologous chromosome in chimpanzee (PTR 19), but instead on PTR 12, which is homologous to HSA 2p. 40 refs., 3 figs.« less

Karyotyping

MedlinePlus

... to a genetic syndrome or condition, such as: Down syndrome Klinefelter syndrome Philadelphia chromosome Trisomy 18 Turner syndrome ... and the A.D.A.M. Editorial team. Down Syndrome Read more Genetic Disorders Read more Genetic Testing ...

Comparative physical mapping between wheat chromosome arm 2BL and rice chromosome 4.

PubMed

Lee, Tong Geon; Lee, Yong Jin; Kim, Dae Yeon; Seo, Yong Weon

2010-12-01

Physical maps of chromosomes provide a framework for organizing and integrating diverse genetic information. DNA microarrays are a valuable technique for physical mapping and can also be used to facilitate the discovery of single feature polymorphisms (SFPs). Wheat chromosome arm 2BL was physically mapped using a Wheat Genome Array onto near-isogenic lines (NILs) with the aid of wheat-rice synteny and mapped wheat EST information. Using high variance probe set (HVP) analysis, 314 HVPs constituting genes present on 2BL were identified. The 314 HVPs were grouped into 3 categories: HVPs that match only rice chromosome 4 (298 HVPs), those that match only wheat ESTs mapped on 2BL (1), and those that match both rice chromosome 4 and wheat ESTs mapped on 2BL (15). All HVPs were converted into gene sets, which represented either unique rice gene models or mapped wheat ESTs that matched identified HVPs. Comparative physical maps were constructed for 16 wheat gene sets and 271 rice gene sets. Of the 271 rice gene sets, 257 were mapped to the 18-35 Mb regions on rice chromosome 4. Based on HVP analysis and sequence similarity between the gene models in the rice chromosomes and mapped wheat ESTs, the outermost rice gene model that limits the translocation breakpoint to orthologous regions was identified.

The importance of having two X chromosomes

PubMed Central

Arnold, Arthur P.; Reue, Karen; Eghbali, Mansoureh; Vilain, Eric; Chen, Xuqi; Ghahramani, Negar; Itoh, Yuichiro; Li, Jingyuan; Link, Jenny C.; Ngun, Tuck; Williams-Burris, Shayna M.

2016-01-01

Historically, it was thought that the number of X chromosomes plays little role in causing sex differences in traits. Recently, selected mouse models have been used increasingly to compare mice with the same type of gonad but with one versus two copies of the X chromosome. Study of these models demonstrates that mice with one X chromosome can be strikingly different from those with two X chromosomes, when the differences are not attributable to confounding group differences in gonadal hormones. The number of X chromosomes affects adiposity and metabolic disease, cardiovascular ischaemia/reperfusion injury and behaviour. The effects of X chromosome number are likely the result of inherent differences in expression of X genes that escape inactivation, and are therefore expressed from both X chromosomes in XX mice, resulting in a higher level of expression when two X chromosomes are present. The effects of X chromosome number contribute to sex differences in disease phenotypes, and may explain some features of X chromosome aneuploidies such as in Turner and Klinefelter syndromes. PMID:26833834

A Rare De novo Complex Chromosomal Rearrangement (CCR) Involving Four Chromosomes in An Oligo-asthenosperm Infertile Man

PubMed Central

Asia, Saba; Vaziri Nasab, Hamed; Sabbaghian, Marjan; Kalantari, Hamid; Zari Moradi, Shabnam; Gourabi, Hamid; Mohseni Meybodi, Anahita

2014-01-01

Complex chromosomal rearrangements (CCRs) are rare events involving more than two chromosomes and over two breakpoints. They are usually associated with infertility or sub fertility in male carriers. Here we report a novel case of a CCR in a 30-year-old oligoasthenosperm man with a history of varicocelectomy, normal testes size and normal endocrinology profile referred for chromosome analysis to the Genetics unit of Royan Reproductive Biomedicine Research Center. Chromosomal analysis was performed using peripheral blood lymphocyte cultures and analyzed by GTG banding. Additional tests such as C-banding and multicolor fluorescence in situ hybridization (FISH) procedure for each of the involved chromosomes were performed to determine the patterns of the segregations. Y chromosome microdeletions in the azoospermia factor (AZF) region were analyzed with multiplex polymerase chain reaction. To identify the history and origin of this CCR, all the family members were analyzed. No micro deletion in Y chromosome was detected. The same de novo reciprocal exchange was also found in his monozygous twin brother. The other siblings and parents were normal. CCRs are associated with male infertility as a result of spermatogenic disruption due to complex meiotic configurations and the production of chromosomally abnormal sperms. These chromosomal rearrangements might have an influence on decreasing the number of sperms. PMID:24611143

Molecular Characterization of the Pericentric Inversion That Causes Differences Between Chimpanzee Chromosome 19 and Human Chromosome 17

PubMed Central

Kehrer-Sawatzki, Hildegard; Schreiner, Bettina; Tänzer, Simone; Platzer, Matthias; Müller, Stefan; Hameister, Horst

2002-01-01

A comparison of the human genome with that of the chimpanzee is an attractive approach to attempts to understand the specificity of a certain phenotype's development. The two karyotypes differ by one chromosome fusion, nine pericentric inversions, and various additions of heterochromatin to chromosomal telomeres. Only the fusion, which gave rise to human chromosome 2, has been characterized at the sequence level. During the present study, we investigated the pericentric inversion by which chimpanzee chromosome 19 differs from human chromosome 17. Fluorescence in situ hybridization was used to identify breakpoint-spanning bacterial artificial chromosomes (BACs) and plasmid artificial chromosomes (PACs). By sequencing the junction fragments, we localized breakpoints in intergenic regions rich in repetitive elements. Our findings suggest that repeat-mediated nonhomologous recombination has facilitated inversion formation. No addition or deletion of any sequence element was detected at the breakpoints or in the surrounding sequences. Next to the break, at a distance of 10.2–39.1 kb, the following genes were found: NGFR and NXPH3 (on human chromosome 17q21.3) and GUC2D and ALOX15B (on human chromosome 17p13). The inversion affects neither the genomic structure nor the gene-activity state with regard to replication timing of these genes. PMID:12094327

Chromosome Banding in Amphibia. XXXVI. Multimorphic Sex Chromosomes and an Enigmatic Sex Determination in Eleutherodactylus johnstonei (Anura, Eleutherodactylidae).

PubMed

Schmid, Michael; Steinlein, Claus

2018-01-01

A detailed cytogenetic study on the leaf litter frog Eleutherodactylus johnstonei from 14 different Caribbean islands and the mainlands of Venezuela and Guyana revealed the existence of multimorphic XY♂/XX♀ sex chromosomes 14. Their male sex determination and development depends either on the presence of 2 telocentric chromosomes 14 (XtYt), or on 1 submetacentric chromosome 14 (Xsm) plus 1 telocentric chromosome 14 (Yt), or on the presence of 2 submetacentric chromosomes 14 (XsmYsm). The female sex determination and development requires either the presence of 2 telocentric chromosomes 14 (XtXt) or 2 submetacentric chromosomes 14 (XsmXsm). In all individuals analyzed, the sex chromosomes 14 carry a prominent nucleolus organizer region in their long arms. An explanation is given for the origin of the (XtYt)♂, (XsmYt)♂, (XsmYsm)♂, (XtXt)♀, and (XsmXsm)♀ in the different populations of E. johnstonei. Furthermore, the present study gives detailed data on the chromosome banding patterns, in situ hybridization experiments, and the genome size of E. johnstonei. © 2018 S. Karger AG, Basel.

NCI Helps Children’s Hospital of Philadelphia to Identify and Treat New Target in Pediatric Cancer | Poster

Cancer.gov