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Zeitschriftenartikel zum Thema „QS3“

Autor: Grafiati

Veröffentlicht am 17. September 2021

Zuletzt aktualisiert am 13. Februar 2022

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1

McCausland, Beth, Nicola Minicozzi, Siobhan O'Halloran, Avril Ward und Kerry Elliott. „Increasing staff confidence about domestic abuse identification, disclosure and safeguarding in a community mental health team“. BJPsych Open 7, S1 (Juni 2021): S146—S147. http://dx.doi.org/10.1192/bjo.2021.413.

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AimsTo increase staff confidence about identifying Domestic Abuse (DA), particularly regarding ‘how to ask’ to encourage disclosure and the pathways available for appropriately safeguarding survivors; in a Community Mental Health Team (CMHT) setting.BackgroundDA is bi-directionally associated with mental health (MH) disorders; 1:4 women in contact with MH services are currently experiencing DA. MH professionals (MHPs) are in a privileged position to identify DA and support survivors. However, this is dependent on MHPs receiving adequate training about DA. For this, we collaborated with Pathfinder, a national pilot project run by a consortium of five expert partners that aims to establish comprehensive health practice in relation to DA and Violence Against Women & Girls in Acute Hospital Trusts, MH Trusts and Primary Care. In Southampton, Pathfinder has funded two domestic and sexual abuse (DSA) advocates to both train MH staff and take a small caseload of MH service users who are experiencing abuse.MethodWe conducted a baseline survey of staff confidence across the following domains:Knowing the legal definition of DA,The process used to escalate a DA concern,How to make a referral,How to complete DASH forms,How and when to refer to Pathfinder,What the following acronyms mean: PIPPA, MAPPA, MARAC, IDVA, DASH,What HRDA and MASH mean,How to ask about DA,Who to signpost service users to if they make a disclosure, and when to involve the police.We presented the survey results at the regional Pathfinder strategic group, with Trust management representatives present. This project fits within the strategic group's sustainability aims to increase DA awareness and safeguarding processes across the Trust.The Pathfinder funded DSA Advisors delivered a four-hour training package targeting the surveyed questions and wider information on DA. We then re-surveyed to see if staff confidence had increased. We are currently analyzing the number of referrals to the Pathfinder service pre- and post-training.ResultStaff confidence increased across all domains following the training (% mean increase): Qs1 (35%), Qs2 (9%), Qs3 (45%), Qs4 (81%), Qs5 (25%), Qs6 (49%), Qs7 (89%), Qs8 (62%) and Qs9 (48%).We have now arranged a bi-monthly drop-in at the CMHT by the DSA advisor who provided the training, to embed the link between the services and maintain staff confidence. We will circulate these results to advocate that this training is provided across the Trust.

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Lu, Karen B., Mikaela Kislevitz, John Hoopman, Yucel Akgul, Fritz Barton und Jeffrey M. Kenkel. „Abstract QS3“. Plastic and Reconstructive Surgery - Global Open 7 (April 2019): 104. http://dx.doi.org/10.1097/01.gox.0000558423.96918.d6.

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Lu, Xiaona, Antonio Jorge Forte, Michael Alperovich, Derek M. Steinbacher, Nivaldo Alonso und John A. Persing. „Abstract QS3“. Plastic and Reconstructive Surgery - Global Open 8 (April 2020): 138. http://dx.doi.org/10.1097/01.gox.0000667868.19401.a3.

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Lu, Xiaona, Antonio Jorge Forte, Michael Alperovich, Nivaldo Alonso und John A. Persing. „QS3: Influence Of Nonsyndromic Bicoronal Synostosis And Syndromic Influences On And Periorbital Malformation“. Plastic and Reconstructive Surgery - Global Open 9, Nr. 7S (Juli 2021): 26–27. http://dx.doi.org/10.1097/01.gox.0000770068.53559.0d.

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Higgins, R. S., J. Smiley, A. Oates, C. Temenek und R. Nubani. „QS3. The Effectiveness of Amiodarone Protocol to Treat Atrial Fibrillation in Postoperative Cardiac Patients“. Journal of Surgical Research 151, Nr. 2 (Februar 2009): 282. http://dx.doi.org/10.1016/j.jss.2008.11.294.

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Henn, Dominic, Dehua Zhao, Clark A. Bonham, Kellen Chen, Autumn H. Greco, Jagannath Padmanabhan, Artem A. Trotsyuk et al. „QS3: CRISPR/Cas9 Editing of Autologous Dendritic Cells to Enhance Angiogenesis and Wound Healing“. Plastic and Reconstructive Surgery - Global Open 9, Nr. 7S (Juli 2021): 7. http://dx.doi.org/10.1097/01.gox.0000769960.21263.cc.

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Yesantharao, Pooja S., Jordan Garcia, Carisa M. Cooney und Damon Cooney. „QS3: The Ideal Match: Optimizing Partial Face Transplants In Terms Of Skin Tone Discrepancies“. Plastic and Reconstructive Surgery - Global Open 9, Nr. 7S (Juli 2021): 34–35. http://dx.doi.org/10.1097/01.gox.0000770116.45695.3e.

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Sasson, Daniel C., Rachita Sood, Mona Ascha, Jeremy W. Cornelius, Abigail L. Muldoon, Noopur Gangopadhyay, Diane Chen, Julia F. Corcoran und Sumanas W. Jordan. „QS3: Does Top Surgery Reduce Chest Dusphoria in Trans/Non-binary Adolescents and Young Adults“. Plastic and Reconstructive Surgery - Global Open 9, Nr. 7S (Juli 2021): 44–45. http://dx.doi.org/10.1097/01.gox.0000770168.93491.27.

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Zuckerbraun, Brian, Augustine Choi, Sruti Shiva und Mark Gladwin. „QS3. Low Dose Nebulized Nitrite Prevents or Reverses Pulmonary Hypertension and Is Dependent on Xanthine Oxidoreductase“. Journal of Surgical Research 144, Nr. 2 (Februar 2008): 271–72. http://dx.doi.org/10.1016/j.jss.2007.12.240.

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King, Thomas, Eric Williams, Sonja Samant, Mustafa Chopan, Harvey Chim, Bruce Mast und Ellen Satteson. „QS3: Practice Trends in Plastic Hand Surgery: An Evaluation of Cases in the ASPS TOPs Database“. Plastic and Reconstructive Surgery - Global Open 9, Nr. 7S (Juli 2021): 18. http://dx.doi.org/10.1097/01.gox.0000770016.78392.44.

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Wu, Jianlu, Bing Zhou, Xingwang Li und Youcef Bouzidi. „Effective and efficient approaches for calculating seismic ray velocity and attenuation in viscoelastic anisotropic media“. GEOPHYSICS 86, Nr. 1 (16.12.2020): C19—C35. http://dx.doi.org/10.1190/geo2020-0126.1.

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In viscoelastic anisotropic media, the elastic moduli, slowness vector, phase, and ray velocity are all complex-valued quantities in the frequency domain. Solving the complex eikonal equation becomes computationally complex and time-consuming. We have developed two approximate methods to effectively calculate the ray velocity vector, attenuation, and quality factor in viscoelastic transversely isotropic media with a vertical symmetry axis (VTI) and in orthorhombic (ORT) anisotropy. The first method is based on the perturbation theory (PER) under the assumption of a homogeneous complex ray vector, which is obtained by applying the elastic background and viscoelastic perturbations to the real and imaginary components of the modulus tensor, respectively. The perturbations of the slowness vectors of the three wave modes (qP, qSV, and qSH) are determined through the vanishing Hamiltonian function. The second method is derived by applying a real slowness direction (RSD) to the inhomogeneous complex slowness vector and then approximately calculating the complex ray velocity vector with the condition of the homogeneous complex vector. The numerical results verify that the two approaches can produce accurate ray velocity vector, attenuation, and quality factors of the qP-wave in viscoelastic VTI and ORT media. The RSD method can yield high accuracies of ray velocity for the qSV- and qSH-wave in viscoelastic VTI models even at triplication of the qSV wavefronts, as well as qS1 and qS2 in a weak ORT medium ([Formula: see text] > 20), except for near the cusp of the qS1 wavefronts (errors approximately 6%) where the PER has more than 10% error.

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Sun, Chang Qing. „The Deformation Features of Crustal Structure Beneath the East Tibetan Margin and Neighboring Areas“. Applied Mechanics and Materials 501-504 (Januar 2014): 1520–23. http://dx.doi.org/10.4028/www.scientific.net/amm.501-504.1520.

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Shear wave splitting analysis is one of the most commonly used techniques in structural seismology. In this study, the splitting parameters of Moho converted P-to-S phase (Pms), the time difference between maximal energy of qS1 and qS2 and their amplitude ratio were obtained. The data were from 29 broad-band stations across the Longmenshan fault belt. Subsequently, the deformation features of the crustal structure beneath the east Tibetan margin and Sichuan basin were analyzed. Our results show that the time delay and the time difference between maximal energy of qS1 and qS2 in east Tibetan margin is obviously larger than Sichuan basin. However, the amplitude ratio between qS1 and qS2 beneath Longmenshan fault is much smaller than other tectonic sub-regions. These results may suggest the existence of fluid beneath the Longmenshan fault.

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Monabati, Ahmad, Akbar Safaei, Sadat Nouri, Moeinadin Safavi und Freidoon Solhjoo. „A Rare Case of Extramedullary T/Myeloid Mixed Phenotype Acute Leukemia with t(1;5)(q23;q33)“. Case Reports in Pathology 2016 (2016): 1–3. http://dx.doi.org/10.1155/2016/8937940.

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Mixed phenotype acute leukemia (MPAL) is a rare neoplasm which accounts for 2–5% of all leukemias and it is classified under heading of acute leukemia of ambiguous lineage in 2008 WHO classification. This patient was a 61-year-old man who presented with malaise and weakness. In physical examination there was cervical and axillary lymphadenopathy. Paraclinical evaluation revealed anemia (Hb = 10.3 g/dL, MCV = 108 fl). Histologic sections of the axillary lymph node revealed leukemic involvement with two discrete populations of cells in immunohistochemistry. One population was immunoreactive for MPO and the other showed immunostaining for CD3, CD99, and tdt. Differential count of bone marrow cells in marrow aspirate had 6% blast. Karyotype study on bone marrow culture depicted an interesting finding which was t(1;5)(q23;q33). An extensive search on literature was done for the same genetic change. A similar translocation has been mentioned in literature for other hematologic malignancies but not for same neoplasm; anyhow this translocation was an imbalanced one and led to der(5)t(1;5)(q12-25;q13-q35).

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Munro, Laura R., David A. J. Stevenson und Dominic J. Culligan. „Translocation (X;5)(q13;q33) in Essential Thrombocythemia“. Cancer Genetics and Cytogenetics 114, Nr. 1 (Oktober 1999): 78–79. http://dx.doi.org/10.1016/s0165-4608(99)00043-6.

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Malhotra, Rahul. „Audit on venous thromboembolism risk assessment in mental health inpatient wards“. BJPsych Open 7, S1 (Juni 2021): S331—S332. http://dx.doi.org/10.1192/bjo.2021.870.

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AimsFrom May 2015 NHS organisations in Wales are expected to report the number of VTE cases associated with hospital admissions which are possible hospital acquired thrombosis (HAT) per calendar month. NICE Quality Standards (QS3) recommend that All patients, on admission, receive an assessment of VTE and bleeding risk using the clinical risk assessment criteria described in the national tool.BackgroundVTE is a condition in which a blood clot (thrombus) forms in a vein, most commonly in the deep veins of the legs, known as a deep vein thrombosis (DVT). The thrombus can dislodge from its original site and travel in the blood (embolism). If it becomes lodged in the lungs, a condition known as a pulmonary embolism (PE) arises and can cause sudden death. Hospital acquired thrombosis is avoidable and unfortunately kills patients under our care.MethodCollected data using a standardised form for 131 patients from 3 inpatient mental health units on documentation of a VTE risk assessment in the inpatient notes. For those patients who had a documented risk assessment, further data were collected on documentation of contraindications, eisk factors, sign and date of prescription and the appropriateness of prescribing.Conclusion8% of patients from one mental health unit (n = 48) had a documented risk assessment in the notes. The subsections of documented risk assessment including contraindications, risk factors, sign and date of prescriptions and appropriateness of prescribing were complete at 100%. No patients from the other 2 mental health units (n = 39,44) had a risk assessment documented in the notes.Recommendations: All adult inpatients in Mental Health units must receive a venous thrombo-embolism risk assessment. This must be documented on the Inpatient Medication Chart. Consider adding a risk assessment checklist tool mapped from the Department of Health guidelines into the Mental Health Inpatient Clerking in pro-forma.

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Kato, Keisuke, Ayako Tagusagawa, Chie Kobayashi, Kazutoshi Koike und Masahiro Tsuchida. „Cytogenetic/Molecular Findings and Treatment Outcome of Childhood Acute Megakaryoblastic Leukemia. Possible Favorable Effect of High Dose Cytarabine and Stem Cell Transplantation.“ Blood 110, Nr. 11 (16.11.2007): 4255. http://dx.doi.org/10.1182/blood.v110.11.4255.4255.

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Abstract Acute megakaryoblastic leukemia (AMKL) is a rare hematological malignancy. Childhood AMKL is classified into three categories including AMKL associated with Down syndrome (AMKL-DS), AMKL with t(1;22)(p13;q13)/RBM15-MKL1, and others. Previous studies have revealed AMKL with t(1;22)(p13;q13) occurs mainly in infant with poor prognosis, and patients with AMKL-DS generally show favorable course, mostly associated with GATA-1 mutation. Appropriate treatment strategy and the role of hematopoietic stem cell transplantation (SCT) remained controversial in childhood AMKL. Cases and Methods: Eleven cases with AMKL were analyzed and reviewed. Cytogenetic analysis was performed with G banding. Expression of RBM15-MKL1 was analyzed with RT-PCR method on seven cases with the material available. Results. The age at onset ranged from 6 months to 2 years and 6 months. Three were males and eight females. Five of 11 cases were AMKL-DS. Three were AMKL with t(1;22)(p13;q13), of which both two cases analyzed express RBM15-MKL1. Translocation at 11q23 was confirmed in two. Preceding MDS had been confirmed in one AMKL-DS and one AMKL with t(1;22)(p13;q13). The treatment differed among the cases; however, the regimens including high dose cytarabine (HD-CA) were utilized as first-line therapy in eight cases out of 11, resulting in long term remission in five. In particular, three AMKL with t(1;22)(p13;q13) attained long term remission with HD-CA containg regimen. Three cases underwent SCT on disease and two of three remain in remission for 7 years and 4 months, respectively. Two poor prognostic AMKL-DS cases had breakpoint at 22q13 where MKL1 resides and at 17p13 where TP53 is localized. Discussion. Childhood AMKL is heterogenous on cytogenetic/molecular aspects. HD-CA containing regimens might have favorable effect even on AMKL with t(1;22)(p13;q13) and the other poor prognostic AMKL. SCT might be effective even for refractory disease. patient characteristics case sex age at onset clinical feature karyotype RBM15-MKL1 treatment outcome abbreviations: M, male; F, female; y, year; mo, month; MDS, myelodysplastic syndrome; TMD, transient myeloproliferative disorder; NA, not available; CA, chemotherapeutic regimen containing normal dose of cytarabine; HD-CA, chemotherapeutic regimen containing high dose cytarabine; CR, complete remission; Rel, relapse; and DOD, died of disease 1 M 1y DS 53, XY, +6, +8, +10, +13, +14, +19, 21 NA CA 18y11mo CR 2 F 1y7mo 50, XX, +8, +19, +21, +22 − HD-CA 11y10mo CR 3 F 6mo preceding MDS 46, XX, t(1;22), t(11;14)(q23;q22) NA HD-CA 13y10mo CR 4 F 1y5mo 48, XX, t(1;22)(p13;q13), +2, +mar + HD-CA 12y10mo CR 5 F 2y6mo 46, XX, t(9;11;17)(p22;q23;q21) NA HD-CA, SCT 10y3mo CR 6 F 1y7mo DS 47, XX, +21 NA HD-CA 4y5mo CR 7 M 1y9mo 51, XY, t(1;22)(p13;q13), +6, +8, −17, +20, +21, +21, +mar + HD-CA 9y8mo CR 8 M 1y11mo DS 47, XY, der(5)t(1;5)(q21;q33), del(5)(q?), add(9)(q34), +21, add(22)(q13) − HD-CA, SCT induction failure, 7y8mo CR after SCT on disease 9 F 1y3mo DS, preceding TMD and MDS 48, XX, +8, +21 − CA 7y8mo CR 10 F 11mo DS 45, XX, add(3)(p25), −7, +11, add(11)(p11)X2, −13, der(17)t(13;17)(q12;p13) − CA, HD-CA, SCT 7mo Rel after CA, re-induction failure after HD-CA, SCT on disease, 1mo Rel, DOD 11 F 1y11mo 46, XX, inv(2)(p23;q37), der(5)t(5;15)(p15;q11)t(6;15)(p11;q26), der(6)t(6;15), del(15)(q11) − HD-CA, SCT 6mo Rel after HD-CA, SCT on disease, 4mo CR

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Secco, Christiane, Peter H. Wiernik, John M. Bennett und Elisabeth Paietta. „Acute leukemia with t(10;11)(p11-p15;q13-q23)“. Cancer Genetics and Cytogenetics 86, Nr. 1 (Januar 1996): 31–34. http://dx.doi.org/10.1016/0165-4608(95)00165-4.

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Carlson, Andrew, Howard Yonas, Garth Olson, Kaaren Reichard und Rafael Medina-Flores. „Temporal Chondroblastoma with a Novel Chromosomal Translocation (2;5) (q33;q13)“. Skull Base Reports 1, Nr. 01 (25.03.2011): 065–70. http://dx.doi.org/10.1055/s-0031-1275638.

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Gyger, Martin, Lorraine Forest, Pauline Lussier, Giovanni D'Angelo und Madeleine Desy. „Translocation (1;5)(q23;q33) in adult acute non-lymphocytic leukemia“. European Journal of Haematology 42, Nr. 3 (24.04.2009): 246–49. http://dx.doi.org/10.1111/j.1600-0609.1989.tb00106.x.

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Wilkinson, Kathryn, Elvira R. P. Velloso, Luiz Fernando Lopes, Charles Lee, Jon C. Aster, Margaret A. Shipp und Ricardo C. T. Aguiar. „Cloning of the t(1;5)(q23;q33) in a myeloproliferative disorder associated with eosinophilia: involvement of PDGFRB and response to imatinib“. Blood 102, Nr. 12 (01.12.2003): 4187–90. http://dx.doi.org/10.1182/blood-2003-04-1150.

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Abstract Eosinophilia is common in myeloproliferative disorders (MPDs) with abnormalities of chromosome band 5q31-33, including those that present with t(1;5)(q23;q33). With the development of rational drug therapy, characterization of the molecular targets for these translocations could guide treatment and affect patient survival. We cloned the t(1;5)(q23;q33) and showed that it fuses platelet-derived growth factor receptor beta (PDGFRB) to the coiled-coil domains of a novel partner protein, myomegalin. Using two-color interphase fluorescence in situ hybridization (FISH), we also demonstrated that the eosinophils are clonal in these disorders. Imatinib mesylate has recently been shown to be efficacious in MPDs with PDGFR activation. Therefore, following our molecular studies, we were able to redirect this patient's treatment. Although she had refractory and progressive disease, once imatinib was started, complete clinical and hematologic remission, as well as major cytogenetic response, was achieved. Given the therapeutic implications, our findings stress the need to aggressively investigate the molecular basis of these diseases, with emphasis on the PDGFR family. (Blood. 2003;102: 4187-4190)

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Somers, Gino R., Ikuko Teshima, Ahmed Nasr, Anthony Cook, Antoine E. Khoury und Glenn P. Taylor. „Intrascrotal Lipoblastoma With a Complex Karyotype: A Case Report and Review of the Literature“. Archives of Pathology & Laboratory Medicine 128, Nr. 7 (01.07.2004): 797–800. http://dx.doi.org/10.5858/2004-128-797-ilwack.

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Abstract Lipoblastoma is a tumor of adipose tissue that usually occurs in young children. Most lipoblastomas occur on the extremities, trunk, and head and neck, and most have rearrangements of the 8q region. We describe a lipoblastoma in a 12-month-old boy who presented with a rapidly enlarging scrotal mass. Electron microscopy revealed features consistent with immature adipocytes, and cytogenetic analysis revealed the following karyotype: 57,XY,+4,+6,+7,der(8)t(8;12) (q22;q13), +der(8)t(8;12) (q22;q13), +9,+10,+12,−16,+17,+der(18)t(8;18)(q22;q23),+19,+20. Interestingly, the breakpoint on chromosome 12 (q13) is the same as that seen in lipoblastomas. To our knowledge, this is the first reported case of such a complex karyotype in lipoblastoma and adds to the expanding list of karyotypic abnormalities seen in such tumors.

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Chen, Yun, Xinyi Wang, Yanqi Zhao, Haolin Shi, Xiaoman Liu und Zhigang Niu. „Quantitative Evaluation for the Threat Degree of a Thermal Reservoir to Deep Coal Mining“. Geofluids 2020 (07.11.2020): 1–15. http://dx.doi.org/10.1155/2020/8885633.

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Taking the Suiqi coalfield located in North China as the object, where the coal seam burial depth is more than 1100 m, the water abundance of the roof pore thermal storage aquifer is better than average, the ground temperature is abnormally high, and hydrogeological data are relatively lacking, this paper selects and determines eight index factors that influence the mining of the coalfield. Based on the analytic hierarchy process (AHP), the index factor weight is defined, and then, the threat degree of the roof thermal storage aquifer to the coal mining is quantitatively evaluated and divided by using the fuzzy variable set theory. The evaluation results show that the threat degree of the roof in the eastern region is generally greater than that in the western region and that the closer it is to the coal seam outcrop line, the higher the threat degree is; near the boreholes, in the areas Qs1,Qs5, Qs8, Sx1, Tk5, Zc4, and Zc7, which are close to the hidden outcrop line of the coal seam, the classification characteristic value of the threat degree is greater than 3.5, which is in the high-threat zone for disasters caused by roof thermal storage aquifers during coal seam mining. The area above the medium-threat zone accounts for 71.82% of the total study area, indicating that deep coal mining is affected by multiple factors and that roof water and heat disasters are more likely to occur.

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Рыбаков, M. Н. „Неразрешимость модальных логик одноместного предиката“. Logical Investigations 23, Nr. 2 (05.10.2017): 60–75. http://dx.doi.org/10.21146/2074-1472-2017-23-2-60-75.

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Рассматриваются модальные предикатные логики в языке, содержащем только одноместные предикатные буквы. Показано, что любая логика, содержащаяся в ${\bf QS5}, {\bf QGLLin}$ или ${\bf QGrz.3}$ является алгоритмически неразрешимой в языке с одной одноместной предикатной буквой (как при наличии, так и при отсутствии в логике формулы Баркан). Также показано, что логики конечных шкал Крипке (как с расширяющимися, так и с постоянными областями) для ${\bf QK}, {\bf QT}, {\bf QD}, {\bf QK4}, {\bf QS4}, {\bf QS5}, {\bf QGL}, {\bf QGrz}$ и многих других не являются рекурсивно перечислимыми в языке с одной одноместной предикатной буквой. Тем не менее табличные логики и логики шкал Крипке с ограничением на число миров, достижимых из произвольного мира, разрешимы в языке с бесконечным множеством одноместных предикатных букв. DOI: 10.21146/2074-1472-2017-23-2-60-75

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ABU ELELLA, MAHMOUD H., MARWA M. ABDEL-AZIZ und NAHED A. ABD EL-GHANY. „SYNTHESIS OF A HIGH-PERFORMANCE ANTIMICROBIAL O-QUATERNIZED ALGINATE – A PROMISING POTENTIAL ANTIMICROBIAL AGENT“. Cellulose Chemistry and Technology 55, Nr. 1-2 (12.02.2021): 75–86. http://dx.doi.org/10.35812/cellulosechemtechnol.2021.55.08.

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Three novel biologically active quaternized sodium alginates were synthesized via the reaction of sodium alginate (SA) with 3-chloro-2-hydroxypropyl trimethylammonium chloride, at room temperature for different time intervals (1, 3 and 6 h), to produce quaternized sodium alginates designated as QSA1, QSA3 and QSA6. The percentage degree of quaternization (DQ%) significantly increased with increasing the reaction time. Images from FTIR, 1H-NMR, XRD and SEM have confirmed the chemical structures of the QSA samples. Their antimicrobial activity was investigated against bacteria and fungi using XTT assay, and the results showed that all QSA samples displayed high growth inhibition capacity of the tested microorganisms, compared to zero inhibition for SA, as shown by their lower minimum inhibitory concentration (MIC). The QSA6 was the best antimicrobial composite, displaying the same MIC value as that of the used reference drugs. The developed composites were found to be safe on normal human fibroblast cells (WI-38 cell line), by evaluating them using cytotoxic activity measurement, which makes QSA a promising material in biomedical and food applications.

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Wong, K. F., C. C. So und P. H. Yu. „Translocation (12;17)(q13;q23) in de Novo Acute Myeloid Leukemia with Trilineage Myelodysplasia“. Cancer Genetics and Cytogenetics 114, Nr. 2 (Oktober 1999): 159–61. http://dx.doi.org/10.1016/s0165-4608(99)00062-x.

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Barjaktarović, Nada, Gordana Joksić, Vitana Kostić und Kostandina Popović. „Partial trisomy 2q+ as a result of a balanced translocation (1;2) (q43;q33)“. Human Genetics 71, Nr. 3 (November 1985): 273. http://dx.doi.org/10.1007/bf00284591.

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Nyquist, Kaja Beate, Jim Thorsen, Petter Brandal, Alexander Fosså, Bodil Bjerkehagen, Sverre Heim und Francesca Micci. „Molecular cytogenetic characterization of a t(1;5)(q43;q33) in a mesenchymal chondrosarcoma“. Cancer Genetics and Cytogenetics 203, Nr. 1 (November 2010): 78. http://dx.doi.org/10.1016/j.cancergencyto.2010.07.073.

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de Figueiredo, Amanda Faria, Hasmik Mkrtchyan, Thomas Liehr, Eliane Maria Soares Ventura, Terezinha de Jesus Marques-Salles, Neide Santos, Raul Corrêa Ribeiro, Eliana Abdelhay und Maria Luiza Macedo Silva. „A case of childhood acute myeloid leukemia AML (M5) with a neocentric chromosome neo(1)(qter→q23∼24::q23∼24→q43→neo→q43→qter) and tetrasomy of chromosomes 8 and 21“. Cancer Genetics and Cytogenetics 193, Nr. 2 (September 2009): 123–26. http://dx.doi.org/10.1016/j.cancergencyto.2009.05.001.

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Gupta, Ruchi, Khaliqur Rahman, Khaliqur Rahman, Manish Kumar Singh, Manish Kumar Singh, Surabhi Kumari, Surabhi Kumari et al. „Clinico-pathological spectrum and novel karyotypic findings in myelodysplastic syndrome: Experience of tertiary care centre in India“. Mediterranean Journal of Hematology and Infectious Diseases 9, Nr. 1 (16.08.2017): e2017048. http://dx.doi.org/10.4084/mjhid.2017.048.

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Background: Myelodysplastic syndrome (MDS) is a heterogeneous disorder characterized clinically by presence of cytopenia/s. Limited data is available pertaining to the morphological spectrum and cytogenetic profile of Indian MDS patients. The aim of the study was to ascertain the clinco pathological, morphological and cytogenetic spectrum of Indian MDS patients. Material and methods: A retrospective analysis of all patients diagnosed as MDS from June 2012-December 2016 was performed. Their clinical and laboratory data was collated and reviewed.Results: A total of 150 patients of as primary MDS were evaluated with M: F ratio of 1.6:1 and median age of 55.5 years. 64% patients presented with pancytopenia, with thrombocytopenia alone was seen in only 2 cases. There were 66 (44%) cases of MDS-MLD, 33 (22%) MDS-EB 2, 32 (21.3%) MDS–EB 1, 13 (8.6%) cases MDS-SLD and two cases each of MDS-SLD-RS, MDS-MLD-RS and RCC. Cytogenetic data was available in 86/150 patients, 50% of which were abnormal. Complex karyotype was observed to be the commonest abnormality (27.5%). Novel translocations like t(9;22)(q11.2;q34.2) in addition to other abnormalities (n=3), t(2;4)(p25;q23),t(1;5)(p22;q33), t(1;12)(p34;p11.2) and t(5;7;9;)(q13;q32;p22) were observed.Conclusion: The median age of patients in India is almost a decade younger than the western population. Moreover, majority of the patients belonged to the high risk IPSS-R prognostic group (31.4%), followed by intermediate (29%) and very high risk groups (24.4%) in our cohort of patients. Seventy percent individuals, < 40 years belonged to the high prognostic categories, indicating that Indian MDS patients have high disease burden and in turn more likelihood for leukemic transformation.

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Fonseca, Rafael, Richard J. Bailey, Gregory J. Ahmann, S. Vincent Rajkumar, James D. Hoyer, John A. Lust, Robert A. Kyle, Morie A. Gertz, Philip R. Greipp und Gordon W. Dewald. „Genomic abnormalities in monoclonal gammopathy of undetermined significance“. Blood 100, Nr. 4 (15.08.2002): 1417–24. http://dx.doi.org/10.1182/blood.v100.4.1417.h81602001417_1417_1424.

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Translocations involving immunoglobulin (Ig) loci and chromosome 13 monosomy (Δ13) are frequent cytogenetic findings in multiple myeloma (MM). Similar chromosomal aberrations have been identified in the monoclonal gammopathy of undetermined significance (MGUS), but their prevalence and significance remain uncertain. Bone marrow from 72 patients with MGUS (n = 62) and smoldering MM (n = 10) was evaluated for translocations between the Ig heavy chain (IgH) and chromosomes 4, 11, and 16, translocations involving Ig light chain–lambda (IgL-λ, and Δ13. Fluorescence in situ hybridization (FISH) analysis was done on clonal plasma cells (PCs) detected by immunofluorescence (cIg-FISH) of the cytoplasmic light chain. We also studied cells for cyclin D1 and FGFR3 up-regulation by immunohistochemistry and immunofluorescence, respectively. Twenty-seven (46%) of 59 patients had IgH translocations, and 4 (11%) of 37 had an IgL-λ translocation. A t(11;14)(q13;q32) was found in 15 (25%) of 59 patients, a t(4;14)(p16.3;q32) in 9% of patients, and a t(14;16)(q32;q23) in 5% of patients. All patients with t(4;14)(p16.3;q32) tested (n = 3) had intense cytoplasmic fluorescence with an anti-FGFR3 antibody. PC nuclear staining of cyclin D1 was only observed in patients with t(11;14)(q13;q32); Δ13 was detected in the clonal PCs in 50% of patients. The percentage of abnormal PCs varied with any given abnormality. No obvious clinical or biologic correlations were associated with these chromosome abnormalities. Similar translocations are found in both MGUS and MM, including t(4;14)(p16.3;q32) and t(14;16)(q32;q23). Moreover, Δ13 is common in MGUS and unlikely to play a predominant role in the evolution of MGUS to MM.

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Chang, Tom, Joshua Graff Zivin, Tal Gross und Matthew Neidell. „Particulate Pollution and the Productivity of Pear Packers“. American Economic Journal: Economic Policy 8, Nr. 3 (01.08.2016): 141–69. http://dx.doi.org/10.1257/pol.20150085.

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We study the effect of outdoor air pollution on the productivity of indoor workers at a pear-packing factory. Increases in fine particulate matter (PM2.5), a pollutant that readily penetrates indoors, leads to significant decreases in productivity, with effects arising at levels below air quality standards. In contrast, pollutants that do not travel indoors, such as ozone, have little, if any, effect on productivity. This effect of outdoor pollution on indoor worker productivity suggests an overlooked consequence of pollution. Back-of-the-envelope calculations suggest the labor savings from nationwide reductions in PM2.5 generated a sizable fraction of total welfare benefits. (JEL D24, J24, L66, Q13, Q51, Q53)

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Corinaldesi, Giorgio. „Haploinsufficiency of RPS14 and RPS24 in 5q-Syndrome“. Blood 120, Nr. 21 (16.11.2012): 4964. http://dx.doi.org/10.1182/blood.v120.21.4964.4964.

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Abstract Abstract 4964 The 5q-syndrome is a subtype of myelodysplastic syndrome, a rare disorder caused by the loss of a part of the long arm of chromosome 5, being firstly described in 1974 by Van Den Berghe; the cytogenetic characterization reports 4 types of deletion of chromosome 5 (q13-q31), (q13-q33), (q22-q25), (q32-q33) in a critical deletion region (CDR 1 and 2), that shows a reduction in gene expression of 50–60%, the aploinsufficiency includes the tumor suppressor genes, the regulation of gene splicing and apoptosis, the growth inhibitory protein, and the PDGF and p53 pathway. The CDR1 deletion involves genes encoding the 40S ribosomal subunit (D55479-CDC23, EGR1, CDC25C), while the CDR2 deletion includes several genes (SPARC, WIG-1, BMI-1, MEGF-1, RPS14, RPS24) encoding the transcription factor Egr-1/K20×20, the cytoskeletal remodeling protein, and the alphacatenin. The mechanism of the aploinsufficiency remains unresolved, but we have observed the characteristic changes Cys224-with Arg234, and the down-regulation of micro RNA-genes RPL28, EF1D, and up-regulation of several pro-apoptotic genes BAX and CAPS3, that is caused by a defect in ribosomal protein function, which is characterized by macrocytic anemia, thrombocytosis, megakaryocyte hyperplasia with nuclear hypolobation, erythroblastopenia associated with displastic abnormalities of hematopoietic stem cells/progenitor cells (HSCs/HPCs), hypogranular neutrophils or pseudo Chediak-Higashi large granules, ringed sideroblasts, excess of blasts, and increased malignancy (acute myeloid leukemia). In accordance of what recent data are currently suggesting we have also observed the mutation of the JaK2 gene and FLT3; this means that many other candidate genes may play a role in this disease and in the risk for clonal evolution and in the progression of acute myeloid leukemia. Disclosures: No relevant conflicts of interest to declare.

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Tzschach, Andreas, Christina Kelbova, Sabine Weidensee, Hartmut Peters, Hans-Hilger Ropers, Reinhard Ullmann, Fikret Erdogan et al. „Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome in a Girl with Chromosome Translocation t(2;3)(q33;q23)“. Ophthalmic Genetics 29, Nr. 1 (Januar 2008): 37–40. http://dx.doi.org/10.1080/13816810701867615.

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Birdsall, Sandra H., Kenneth A. MacLennan und Barry A. Gusterson. „t(6;12)(q23;q13) and t(10;16)(q22;p11) in a phyllodes tumor of breast“. Cancer Genetics and Cytogenetics 60, Nr. 1 (Mai 1992): 74–77. http://dx.doi.org/10.1016/0165-4608(92)90236-2.

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Barriga, Francisco, Pablo Bertin, Eugenia Legües, Concepción Risueño, Winston Andrade, Elena Cabrera und Gonzalo Grebe. „t(1;5)(q23;q33) in a patient with high-risk b-lineage acute lymphoblastic leukemia“. Cancer Genetics and Cytogenetics 87, Nr. 1 (März 1996): 4–6. http://dx.doi.org/10.1016/0165-4608(95)00217-0.

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Kumar, Rajneesh, Vijay Chawla und Ibrahim Abbas. „Effect of viscosity on wave propagation in anisotropic thermoelastic medium with three-phase-lag model“. Theoretical and Applied Mechanics 39, Nr. 4 (2012): 313–41. http://dx.doi.org/10.2298/tam1204313k.

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The aim of the present paper is to study the wave propagation in anisotropic viscoelastic medium in the context of the theory threephase- lag model of thermoelasticity. It is found that there exist two quasi-longitudinal waves (qP1, qP2) and two transverse waves (qS1, qS2). The governing equations for homogeneous transversely isotropic thermoviscoelastic are reduced as a special case from the considered model. Different characteristics of waves like phase velocity, attenuation coefficient, specific loss and penetration depth are computed from the obtained results. Viscous effect is shown graphically on different resulting quantities for two-phase-lag model and three-phase-lag model of thermoelasticity. Some particular cases of interest are also deduced from the present investigation.

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Wetzler, Meir, M. T. Brady, S. N. J. Siat, S. Kakati, A. W. Block, X. Wang, S. P. Hunger, A. J. Carroll und S. Ferrone. „Differential Antigenic Profile of High Molecular Weight-Melanoma Associated Antigen (HMW-MAA) Expressed by 11q23-Positive Acute Leukemia: An Immunotherapeutic Target.“ Blood 106, Nr. 11 (16.11.2005): 3261. http://dx.doi.org/10.1182/blood.v106.11.3261.3261.

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Abstract The poor clinical response of 11q23-positive [also known as mixed lineage leukemia (MLL)] acute leukemia (AL) to chemotherapy-containing regimens has stimulated interest in developing alternative therapeutic strategies. Among them is immunotherapy. Since no leukemia-specific antigen has been identified in 11q23-positive AL, we are developing an antibody-based immunotherapeutic strategy which targets the HMW-MAA. This antigen, which is a membrane bound proteoglycan, represents an attractive target because of its high expression on the surface of 11q23-positive AL blasts and its restricted distribution in normal tissues. Taking advantage of a unique panel of monoclonal antibodies (mAb) recognizing 7 distinct and spatially distant antigenic determinants, we have analyzed the antigenic profile of HMW-MAA by flow cytometry in samples from 15 adult and 14 pediatric patients with 11q23-positive AL. Our results demonstrate a differential expression of the HMW-MAA antigenic determinants and that their expression pattern correlates with cytogenetic subgroups. Specifically, all the determinants were expressed on 6 adult samples [3 t(11;19)(q23;p13), 2 t(4;11)(q21;q23), and 1 t(10;11)(p12;q23)]. In contrast only 3 determinants were detected on 8 adult samples [3 t(9;11)(p22;q23), and 1 each with t(6;11)(q27;q23), t(11;12)(q23;q13), t(11;14)(q23;p11.2), inv(11)(q21q23.2) and add(11)(q23)]. No antigenic determinant was detected on leukemic cells from the adult patient with t(2;11)(p21;q23). Interestingly, the antigenic profile of HMW-MAA expressed on leukemic cells from pediatric patients was different, since all the determinants were expressed on leukemic cells from 6 t(4;11), 1 t(9;11), 1 t(11;1)(1;13;9)(q23;q25p34;q14.3;p13), 2 t(11;19) and 1 del(11)(q14q23). On the other hand no determinant was detectable on the leukemic cells from 3 children [1 with both t(1;11)(p32;q23) and t(4;11), 1 inv(11)(p15q23) and 1 add(11)(q23)]. Whether the difference in the antigenic profile of HMW-MAA expressed by adult and pediatric 11q23-positive AL cells reflects the different pathogenesis of AL in adults and children remains to be determined. Our data show that the differential expression of antigenic determinants of HMW-MAA on 11q23-positive AL cells does not reflect structural differences in the HMW-MAA expressed by various types of 11q23-positive AL as indicated by the results of Western blotting analysis. Further, the differential expression does not correlate with MLL gene rearrangement, since fluorescent in-situ hybridization (FISH) performed on 15 adult samples detected MLL gene rearrangement in 4 of the 6 samples that express all the determinants and in 6 of the 8 samples that express only 3 determinants. In addition, the pediatric sample with inv(11) that does not express any determinant, has MLL gene rearrangement by FISH. Finally, the differential expression does not correlate with the presence of MLL partial tandem duplication, since it was detected in 1 sample that expresses all the antigenic determinants and in 2 samples that express only 3 determinants. These findings emphasize the need to use more than one HMW-MAA-specific mAb to phenotype 11q23-positive AL and to select patients to be treated with HMW-MAA-specific antibody-based immunotherapy.

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Ida, Kohmei, Issay Kitabayashi, Tomohiko Taki, Masafumi Taniwaki, Keiko Noro, Masao Yamamoto, Misao Ohki und Yasuhide Hayashi. „Adenoviral E1A-Associated Protein p300 Is Involved in Acute Myeloid Leukemia With t(11; 22)(q23; q13)“. Blood 90, Nr. 12 (15.12.1997): 4699–704. http://dx.doi.org/10.1182/blood.v90.12.4699.

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Abstract p300, which was originally cloned as a nuclear binding target of the adenovirus E1A oncoprotein, forms a family with cyclic-AMP response element binding protein (CREB)-binding protein (CBP). p300/CBP are considered to be transcriptional coactivators that connect the basal transcriptional machinery to various DNA-binding transcriptional factors. p300/CBP are implicated in both cell differentiation and regulation of cell-cycle. We identify here that the p300 gene is fused to the MLL gene and that in-frame MLL-p300 fusion protein is generated in acute myeloid leukemia (AML) with t(11; 22)(q23; q13). These findings suggest that the basis for the leukemogenesis of t(11; 22)-AML is the inability of p300 to regulate cell-cycle and cell differentiation after fusion with MLL.

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Ida, Kohmei, Issay Kitabayashi, Tomohiko Taki, Masafumi Taniwaki, Keiko Noro, Masao Yamamoto, Misao Ohki und Yasuhide Hayashi. „Adenoviral E1A-Associated Protein p300 Is Involved in Acute Myeloid Leukemia With t(11; 22)(q23; q13)“. Blood 90, Nr. 12 (15.12.1997): 4699–704. http://dx.doi.org/10.1182/blood.v90.12.4699.4699_4699_4704.

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p300, which was originally cloned as a nuclear binding target of the adenovirus E1A oncoprotein, forms a family with cyclic-AMP response element binding protein (CREB)-binding protein (CBP). p300/CBP are considered to be transcriptional coactivators that connect the basal transcriptional machinery to various DNA-binding transcriptional factors. p300/CBP are implicated in both cell differentiation and regulation of cell-cycle. We identify here that the p300 gene is fused to the MLL gene and that in-frame MLL-p300 fusion protein is generated in acute myeloid leukemia (AML) with t(11; 22)(q23; q13). These findings suggest that the basis for the leukemogenesis of t(11; 22)-AML is the inability of p300 to regulate cell-cycle and cell differentiation after fusion with MLL.

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Yamamoto, Katsuya, Kaoru Nagata, Yoshito Tsurukubo, Koichi Inagaki, Ryoichi Ono, Tomohiko Taki, Yasuhide Hayashi und Hiroyuki Hamaguchi. „Translocation (8;12)(q13;p13) during disease progression in acute myelomonocytic leukemia with t(11;19)(q23;p13.1)“. Cancer Genetics and Cytogenetics 137, Nr. 1 (August 2002): 64–67. http://dx.doi.org/10.1016/s0165-4608(02)00555-1.

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Kalla, Claudia, Hagen Nentwich, Magdalena Schlotter, Daniel Mertens, Kathrin Wildenberger, Hartmut Döhner, Stephan Stilgenbauer und Peter Lichter. „Translocation t(X;11)(q13;q23) in B-cell chronic lymphocytic leukemia disrupts two novel genes“. Genes, Chromosomes and Cancer 42, Nr. 2 (12.11.2004): 128–43. http://dx.doi.org/10.1002/gcc.20131.

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Colovic, N., M. Dencic-Fekete, D. Stamatovic, D. Lekovic und M. Gotic. „Myelodysplastic/myeloproliferative neoplasm with t(2;11)(p21;q23)del(5) (q22;q33) but without MLL rearrangement“. Vojnosanitetski pregled, Nr. 00 (2019): 11. http://dx.doi.org/10.2298/vsp190127011c.

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Somers, Gino R., Mary Shago, Maria Zielenska, Helen S. L. Chan und Bo Y. Ngan. „Primary Subcutaneous Primitive Neuroectodermal Tumor with Aggressive Behavior and an Unusual Karyotype: Case Report“. Pediatric and Developmental Pathology 7, Nr. 5 (September 2004): 538–45. http://dx.doi.org/10.1007/s10024-004-2024-6.

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Primitive neuroectodermal tumor/Ewing sarcoma (PNET/ES) rarely occurs in the skin and subcutaneous tissues. We present a case of a 16-year-old girl with primary cutaneous and subcutaneous PNET/ES of the abdominal wall. Despite wide local excision and chemotherapy, she rapidly developed cranial bone and brain metastases, followed by lung and skeletal metastases, and died shortly thereafter. The recurrent tumor exhibited light microscopic features of a small, round, blue cell tumor with intracytoplasmic glycogen. Immunohistochemical analysis showed positivity for CD99, CD56, S100, and glial fibrillary acid protein, and ultrastructural features included cytoplasmic glycogen and focal complex interdigitating synaptic junction-like cytoplasmic folds. Cytogenetic analysis of the relapsed tumor showed a complex karyotype: 47,XX,i(1)(q10), der(4)t(4;19) (q33~q35;q13.1), + 8,t(15;17)(q24;p11.2~p12),der(19)t (19;20)(q13.1;p11.2),der(22)t(20;22)(q13;q13). Cytogenetic, interphase fluorescence in situ hybridization, and molecular genetic analyses failed to show t(11:22) (q24;q12) or abnormalities of chromosome region 22q12. The clinical behavior and atypical and complex cytogenetic abnormalities exhibited by the tumor in this patient are unusual and represent the most aggressive end of the clinical spectrum of cutaneous and subcutaneous PNET/ES.

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Vieira, Luís, Andreia Vaz, Paulo Matos, Ana Paula Ambrósio, Manuel Nogueira, Bárbara Marques, Ana Marques Pereira, Peter Jordan und Maria Gomes da Silva. „Three-way translocation (X;20;16)(p11;q13;q23) in essential thrombocythemia implicatesNFATC2in dysregulation ofCSF2expression and megakaryocyte proliferation“. Genes, Chromosomes and Cancer 51, Nr. 12 (22.08.2012): 1093–108. http://dx.doi.org/10.1002/gcc.21994.

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Ohnishi, Hiroaki, Tomohiko Taki, Hiroshi Yoshino, Junko Takita, Kohmei Ida, Masami Ishii, Kazuhiro Nishida et al. „A complex t(1;22;11)(q44;q13;q23) translocation causingMLL-p300fusion gene in therapy-related acute myeloid leukemia“. European Journal of Haematology 81, Nr. 6 (Dezember 2008): 475–80. http://dx.doi.org/10.1111/j.1600-0609.2008.01154.x.

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Fonseca, Rafael, Emily Blood, Montserrat Rue, David Harrington, Martin M. Oken, Robert A. Kyle, Gordon W. Dewald et al. „Clinical and biologic implications of recurrent genomic aberrations in myeloma“. Blood 101, Nr. 11 (01.06.2003): 4569–75. http://dx.doi.org/10.1182/blood-2002-10-3017.

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Abstract Nonrandom recurrent chromosomal abnormalities are ubiquitous in multiple myeloma (MM) and include, among others, translocations of the immunoglobulin heavy chain locus (IgH). IgH translocations in MM result in the up-regulation of oncogenes, and include more commonly t(11;14)(q13;q32), t(4;14)(p16;q32), and t(14;16)(q32;q23). Based on the recurrent nature of these translocations and their finding since the early stages of the plasma cell (PC) disorders, we hypothesized that they would confer biologic and clinical variability. In addition, deletions of 13q14 and 17p13 have also been associated with a shortened survival. We used cytoplasmic Ig—enhanced interphase fluorescent in situ hybridization to detect deletions (13q14 and 17p13.1), and translocations involving IgH in 351 patients treated with conventional chemotherapy entered into the Eastern Cooperative Oncology Group clinical trial E9486/9487. Translocations were frequently unbalanced with loss of one of the derivative chromosomes. The presence of t(4; 14)(p16;q32) (n = 42; 26 vs 45 months, P < .001), t(14;16)(q32;q23) (n = 15; 16 vs 41 months, P = .003), – 17p13 (n = 37; 23 vs 44 months, P = .005), and – 13q14 (n = 176; 35 vs 51 months, P = .028) were associated with shorter survival. A stratification of patients into 3 distinct categories allowed for prognostication: poor prognosis group (t(4;14)(p16;q32), t(14; 16)(q32;q23), and – 17p13), intermediate prognosis (– 13q14), and good prognosis group (all others), with median survivals of 24.7, 42.3, and 50.5 months, respectively (P < .001). This molecular cytogenetic classification identifies patients into poor, intermediate, and good risk categories. More importantly it provides further compelling evidence that MM is composed of subgroups of patients categorized according to their underlying genomic aberrations.

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Alonso, Cristina N., Claus Meyer, Marta S. Gallego, Jorge G. Rossi, Adrián P. Mansini, Patricia L. Rubio, Adriana Medina, Rolf Marschalek und María S. Felice. „BTBD18: A novel MLL partner gene in an infant with acute lymphoblastic leukemia and inv(11)(q13;q23)“. Leukemia Research 34, Nr. 11 (November 2010): e294-e296. http://dx.doi.org/10.1016/j.leukres.2010.06.006.

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Shardy, Deborah L., Mohammed F. Azim, Rizwan C. Naeem und Sharon E. Plon. „Identification of the Novel Chromosomal Translocation t(17;19)(q23;q13) in a Pediatric Patient with Acute Myeloid Leukemia.“ Blood 106, Nr. 11 (16.11.2005): 4344. http://dx.doi.org/10.1182/blood.v106.11.4344.4344.

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Abstract Chromosomal rearrangements have been associated with many hematologic malignancies. Identification of the genes involved in several of these rearrangements has provided information about the development of malignancy and has led to therapeutic interventions. Historically, a considerable number of pediatric acute myeloid leukemia (AML) cases have been reported as cytogenetically normal. However, with improved cytogenetic techniques and the use of fluorescent in situ hybridization (FISH), new translocations are now being identified. We present the case of a 10-year-old male with AML (FAB subtype M1) and a subtle chromosomal translocation. G-band karyotype analysis revealed a balanced, reciprocal translocation between chromosomes 17 and 19 involving bands 17q23 and 19q13. This translocation was present in 20 out of 20 bone marrow cells examined. Peripheral blood chromosome analysis ruled out a constitutional chromosomal abnormality. Metaphase FISH with telomere-region specific probes for chromosomes 17 and 19 confirmed the reciprocal translocation between 17q and 19q. This patient was treated according to the SJCRH AML 2002 protocol and was randomized to receive high-dose cytarabine. Because he had minimal residual disease following induction therapy, he also received Gemtuzumab Ozogamicin. The patient was in cytogenetic remission for one year after completion of therapy, and then he relapsed with the original leukemic clone and additional cytogenetic abnormalities. The t(17;19)(q23;q13) has not been reported previously in malignancies or other disorders, and therefore identification of the genes at the chromosomal breakpoints may provide new insights into the pathogenesis of AML. As an initial step to map the breakpoint regions, we performed FISH with a commercially available probe encompassing the CRX, GLTSCR2, and GLTSCR1 loci on 19q13 (Vysis, Downers Grove, IL). This revealed that the 19q breakpoint is centromeric to these loci. We are further mapping the translocation breakpoint region on chromosome 19q using FISH-mapped bacterial artificial chromosomes (BACs).

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Mohandas, T., C. Heinzmann, R. S. Sparkes, J. Wasmuth, P. Edwards und A. J. Lusis. „Assignment of human 3-hydroxy-3-methylglutaryl coenzyme A reductase gene to q13 → q23 region of chromosome 5“. Somatic Cell and Molecular Genetics 12, Nr. 1 (Januar 1986): 89–94. http://dx.doi.org/10.1007/bf01560731.

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Golovleva, Irina, Pia Lundberg, Erik Forestier und Anders Wahlin. „Copy Number Variations In Acute Leukemia with Cytogenetically Detected 11q23 Rearrangements“. Blood 116, Nr. 21 (19.11.2010): 4835. http://dx.doi.org/10.1182/blood.v116.21.4835.4835.

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Abstract Abstract 4835 The chromosomal alterations at 11q23 locus with involvement of the MLL gene (mixed-lineage leukemia) represent one of the most common cytogenetic abnormalities in acute leukemia associated with a poor prognosis. MLL is known as a promiscuous gene with 54 partner genes described in 73 recurrent translocations. Translocations of this gene are often visibly balanced without loss or gain of genetic material and their prognostic impact is well defined, but deletions of the same region are less frequent with limited information about their significance. The techniques used for detection of MLL rearrangements are well established and represent conventional chromosome analysis, FISH, Southern blot and RT-PCR. In our study we aimed to define breakpoints of the 11q deletions and study whether additional to cytogenetically balanced cryptical rearrangements at 11q23 are present in acute leukemia using array CGH. Rearrangements and deletions of the 11q23 locus were identified by G-banding and FISH in 56 cases of acute leukemia in the Dept. of Clinical Genetics, University Hospital of Umeå. All cases were tested for mutations in FLT3 and NPM1 genes. In the present study we applied SNP-array (Human CNV370-Duo DNA Analysis BeadChip for Copy Number Variation Research, Illumina, San Diego, California, USA) to 16 cases. Among those 14 cases were adult and 2 childhood leukemia. 9 females and 5 males were diagnosed with either AML or ALL at age of 33–84 years. Chromosome analysis showed cytogenetically balanced translocations of 11q23 in 8 patients (t(4;11)(q21;q23), t(6;11)(q13;q23), t(10;11)(p15;q23), t(11;19)(q23;p13) and deletion of 11q23 in the rest of patients, where 4 cases have had numerous cytogenetic abnormalities. Array CGH revealed totally 72 copy number variants (CNVs) including 34 duplications, 25 deletions and 13 neutral copy of LOH. In 4 of 8 cases with balanced 11q23 translocations no CNVs on chromosome 11 were detected while a duplication of 11q23q25 was detected in 3 patients from the same group and one patient with complex karyotype. The duplication was almost identical in 2 cases with t(4;11)(q21;q23) and t(11;19)(q23;p13) spanning approximately 350 kb (nucleotide position-133943876-134197116). In other two cases the duplication of approximately 15Mb also covered MLL locus. In cases with cytogenetically detected 11q23 deletions the breakpoints were defined but their nucleotide positions were not overlapping. Finally, two cases with 11q23 deletion and additional aberrations did not confirm the 11q23 deletion which might be explained by balanced rearrangement not detected by G-banding. In conclusion, 50% of cytogenetically balanced translocations of 11q23 locus did not demonstrate any additional CNVs at this region confirming absence of loss or gain of genetic material. Notably, in four of 16 cases duplication of 11q25 was detected although its significance was not studied. Further 16 cases are under evaluation and results of totally 32 patients will be presented at the meeting. Disclosures: No relevant conflicts of interest to declare.

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