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https://www.readbyqxmd.com/read/28102719/pregnancy-and-delivery-in-women-with-spinal-muscular-atrophy
#1
Bakri H Elsheikh, Xiaoli Zhang, Kathryn J Swoboda, Sharon Chelnick, Sandra P Reyna, Stephen J Kolb, John T Kissel
OBJECTIVES: To expand the limited available knowledge about pregnancy and delivery in women with spinal muscular atrophy using a cohort of genetically proven SMA patients form USA. METHODS: This was a cross-sectional questionnaire-based study. We mailed questionnaires to 58 women with confirmed SMA. RESULTS: Thirty-two women responded, reporting 35 pregnancies, including 19 women with at least one pregnancy. In this cohort, preterm labor and delivery by cesarean section were more common in mothers with SMA particularly SMA type 2...
January 19, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28100265/allogeneic-stem-cell-transplantation-in-adult-patients-with-acute-myeloid-leukaemia-and-17p-abnormalities-in-first-complete-remission-a-study-from-the-acute-leukemia-working-party-alwp-of-the-european-society-for-blood-and-marrow-transplantation-ebmt
#2
Xavier Poiré, Myriam Labopin, Johan Maertens, Ibrahim Yakoub-Agha, Didier Blaise, Norbert Ifrah, Gérard Socié, Tobias Gedde-Dhal, Nicolaas Schaap, Jan J Cornelissen, Stéphane Vigouroux, Jaime Sanz, Lucienne Michaux, Jordi Esteve, Mohamad Mohty, Arnon Nagler
BACKGROUND: Acute myeloid leukaemia (AML) with 17p abnormalities (abn(17p)) carries a very poor prognosis due to high refractoriness to conventional chemotherapy, and allogeneic stem cell transplantation (allo-SCT) appears as the only potential curative option. METHODS: To address outcomes after allo-SCT in patients with abn(17p), we retrospectively analysed de novo or secondary AML undergoing SCT between 2000 and 2013 from the EBMT registry. RESULTS: One hundred thirty-nine patients with confirmed abn(17p) have been selected...
January 18, 2017: Journal of Hematology & Oncology
https://www.readbyqxmd.com/read/28081176/radiation-induced-apoptosis-of-murine-bone-marrow-cells-is-independent-of-early-growth-response-1-egr1
#3
Karine Z Oben, Beth W Gachuki, Sara S Alhakeem, Mary K McKenna, Ying Liang, Daret K St Clair, Vivek M Rangnekar, Subbarao Bondada
An understanding of how each individual 5q chromosome critical deleted region (CDR) gene contributes to malignant transformation would foster the development of much needed targeted therapies for the treatment of therapy related myeloid neoplasms (t-MNs). Early Growth Response 1 (EGR1) is a key transcriptional regulator of myeloid differentiation located within the 5q chromosome CDR that has been shown to regulate HSC (hematopoietic stem cell) quiescence as well as the master regulator of apoptosis-p53. Since resistance to apoptosis is a hallmark of malignant transformation, we investigated the role of EGR1 in apoptosis of bone marrow cells; a cell population from which myeloid malignancies arise...
2017: PloS One
https://www.readbyqxmd.com/read/28072603/dyserythropoiesis-of-myelodysplastic-syndromes
#4
Carine Lefèvre, Sabrina Bondu, Salomé Le Goff, Olivier Kosmider, Michaela Fontenay
PURPOSE OF REVIEW: Myelodysplastic syndromes (MDS) are heterogeneous diseases of the hematopoietic stem cell in the elderly. Anemia is the main symptom that mostly correlates with dysplastic erythropoiesis in the bone marrow. We will review the recent advances in understanding the diverse mechanisms of dyserythropoiesis. RECENT FINDINGS: Dyserythropoiesis defined as 10% dysplastic erythroid cells in the bone marrow is found in more than 80% of early MDS. Immature erythroblasts accumulate at the expense of mature erythroblasts due to differentiation arrest and apoptosis...
January 7, 2017: Current Opinion in Hematology
https://www.readbyqxmd.com/read/28052942/refractory-primary-immune-thrombocytopenia-with-subsequent-del-5q-mds-complete-remission-of-both-after-lenalidomide
#5
Thomas Bech Mortensen, Henrik Frederiksen, Claus Werenberg Marcher, Birgitte Preiss
A patient with refractory primary immune thrombocytopenia (ITP) characterised by severe skin and mucosal bleedings was treated with several ITP-directed therapies including cyclophosphamide. He later developed therapy-related del(5q) myelodysplastic syndrome with no dysplastic morphological features in bone marrow. He remained severely thrombocytopenic, which suggests ongoing immune mediated platelet destruction. After two 3 week cycles of low-dose lenalidomide, complete cytogenetic remission and complete normalisation of platelet count were observed...
January 4, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28034993/lenalidomide-combined-with-intensive-chemotherapy-in-acute-myeloid-leukemia-and-higher-risk-myelodysplastic-syndrome-with-5q-deletion-results-of-a-phase-ii-study-by-the-groupe-francophone-des-myelodysplasies
#6
Lionel Ades, Thomas Prebet, Aspasia Stamatoullas, Christian Recher, Romain Guieze, Emmanuel Raffoux, Krimo Bouabdallah, Mathilde Hunault, Eric Wattel, Laure Stalnikiewicz, Andrea Toma, Herve' Dombret, Nobert Vey, Marie Sebert, Claude Gardin, Cendrine Chaffaut, Sylvie Chevret, Pierre Fenaux
Patients with acute myeloblastic leukemia or higher risk myelodysplastic syndromes with 5q deletion (generally within complex karyotype) respond poorly to intensive chemotherapy and have very poor survival. In this population, we evaluated escalating doses of lenalidomide combined with IC in a phase II study (NCT00885508) Treatment consisted of daunorubicin (45 mg/m2/d1-3 in cohort 1, escalated to 60mg/m2/1-3 in cohorts2 and 3) combined with AraC (200mg/m2/ d1-7) and lenalidomide (10mg/d1-21 in cohorts1 and 2, escalated to 25mg/d1-21 in cohort 3)...
December 29, 2016: Haematologica
https://www.readbyqxmd.com/read/28031539/recurrent-genetic-defects-on-chromosome-5q-in-myeloid-neoplasms
#7
Naoko Hosono, Hideki Makishima, Reda Mahfouz, Bartlomiej Przychodzen, Kenichi Yoshida, Andres Jerez, Thomas LaFramboise, Chantana Polprasert, Michael J Clemente, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Masashi Sanada, Edward Cui, Amit K Verma, Michael A McDevitt, Alan F List, Yogen Saunthararajah, Mikkael A Sekeres, Jacqueline Boultwood, Seishi Ogawa, Jaroslaw P Maciejewski
BACKGROUND: Deletion of chromosome 5q (del(5q)) is the most common karyotypic abnormality in myeloid neoplasms. MATERIALS AND METHODS: To define the pathogenic molecular features associated with del(5q), next-generation sequencing was applied to 133 patients with myeloid neoplasms (MDS; N = 69, MDS/MPN; N = 5, sAML; N = 29, pAML; N = 30) with del(5q) as a sole abnormally or a part of complex karyotype and results were compared to molecular features of patients diploid for chr5...
December 23, 2016: Oncotarget
https://www.readbyqxmd.com/read/28024515/-disorders-of-ribosomal-proteins-and-related-hematologic-diseases-review
#8
Yue-Kun Qi, Ling-Yun Wu
Ribosomal proteins are key elements of protein synthesis machinery, ribosome. Besides the essential role in ribosome assembly and protein synthesis, there are lots of extraribosomal functions for ribosomal proteins, ranging from regulating cell proliferation and apoptosis to mediating DNA repair, cellular development and differentiation. Based on the typical features of hematologic system, the ribosomal proteins are related with many hematologic diseases, such as Diamond-Blackfan anemia, 5q- syndrome. In this review, the recent research progress on extraribosomal functions and related hematologic diseases are summarised...
December 2016: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/28018438/interstitial-deletion-of-5q33-3q35-1-in-a-boy-with-severe-mental-retardation
#9
Jin Hwan Lee, Hyo Jeong Kim, Jung Min Yoon, Eun Jung Cheon, Jae Woo Lim, Kyong Og Ko, Gyung Min Lee
Constitutional interstitial deletions of the long arm of chromosome 5 (5q) are quite rare, and the corresponding phenotype is not yet clearly delineated. Severe mental retardation has been described in most patients who present 5q deletions. Specifically, the interstitial deletion of chromosome 5q33.3q35.1, an extremely rare chromosomal aberration, is characterized by mental retardation, developmental delay, and facial dysmorphism. Although the severity of mental retardation varies across cases, it is the most common feature described in patients who present the 5q33...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28006840/copy-number-variations-in-dcc-18q-and-erbb2-17q-are-associated-with-disease-free-survival-in-microsatellite-stable-colon-cancer
#10
David Sefrioui, Thomas Vermeulin, France Blanchard, Caroline Chapusot, Ludivine Beaussire, Laura Armengol-Debeir, Richard Sesboué, Alice Gangloff, Mohamed Hebbar, Marie-Christine Copin, Estelle Houivet, Lilian Schwarz, Florian Clatot, Jean-Jacques Tuech, Jacques Bénichou, Laurent Martin, Anne-Marie Bouvier, Jean-Christophe Sabourin, Nasrin Sarafan-Vasseur, Thierry Frébourg, Côme Lepage, Pierre Michel, Frédéric Di Fiore
We conducted a prospective study to assess the prognostic impact of selected copy number variations (CNVs) in stage II-III microsatellite stable (MSS) colon cancer. A total of 401 patients were included from 01/2004 to 01/2009. The CNVs in 8 selected target genes, DCC/18q, EGFR/7p, TP53/17p, BLK/8p, MYC/8q, APC/5q, ERBB2/17q, and STK6/20q, were detected using a quantitative multiplex polymerase chain reaction of short fluorescent fragment (QMPSF) method. The primary end-point was the impact of the CNVs on the 4-year disease-free survival (DFS)...
December 22, 2016: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/27994837/treatment-of-refractory-anemia-with-ring-sideroblasts-associated-with-marked-thrombocytosis-with-lenalidomide-in-a-patient-testing-negative-for-5q-deletion-and-jak2-v617f-and-mpl-w515k-l-mutations
#11
Ryan Keen, Jeremy Pantin, Natasha Savage, Paul M Dainer
Refractory anemia with ring sideroblasts associated with marked thrombocytosis (RARS-T) is a hematologic malignancy that often results in transfusion dependency and a hypercoagulable state. This rare disease currently lacks formal guidelines for treatment; however, various case reports have demonstrated efficacy in the use of lenalidomide. This immunomodulatory drug has shown promise in patients with 5q deletions, with reports of achieving transfusion independence and normalization of platelet counts. Herein we present the case of a 68-year-old African American woman with RARS-T who tested negative for 5q deletion and JAK2 V617F and MPL W515K/L mutations...
November 2, 2016: Hematology Reports
https://www.readbyqxmd.com/read/27970427/utility-by-treatment-line-in-multiple-myeloma-analysis-of-over-9000-eq-5q-3l-questionnaires-from-the-emmos-registry
#12
A J Hatswell, C Couturier, T Ito
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27967292/the-role-of-p53-in-myelodysplastic-syndromes-and-acute-myeloid-leukemia-molecular-aspects-and-clinical-implications
#13
Ling Zhang, Kathy L McGraw, David A Sallman, Alan F List
TP53 gene mutations occurring in patients with myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) are associated with high-risk karyotypes including 17p abnormalities, monosomal and complex cytogenetics. TP53 mutations in these disorders portend rapid disease progression and resistance to conventional therapeutics. Notably, the size of the TP53 mutant clone as measured by mutation allele burden is directly linked to overall survival (OS) confirming the importance of p53 as a negative prognostic variable...
December 14, 2016: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/27923497/in-vivo-anti-inflammatory-activity-and-docking-study-of-newly-synthesized-benzimidazole-derivatives-bearing-oxadiazole-and-morpholine-rings
#14
Ankita Rathore, Raja Sudhakar, Mohamed Jawed Ahsan, Abuzer Ali, Naidu Subbarao, Surender Singh Jadav, Sadiq Umar, M Shahar Yar
In search of potential therapeutics for inflammatory disease, we report herein the synthesis, characterization and anti-inflammatory activities of a new series of 1-{(5-substituted-1,3,4-oxadiazol-2-yl)methyl}-2-(morpholinomethyl)-1H-benzimidazoles (5a-r). The anti-inflammatory activity of the compounds was evaluated using carrageenan induced rat paw edema test. Some compounds showed excellent anti-inflammatory activity in carrageenan induced rat paw edema test. 1-{(5-(2-Chlorophenyl)-1,3,4-oxadiazol-2-yl)methyl}-2-(morpholinomethyl)-1H-benzimidazole (5g) showed maximum anti-inflammatory (74...
November 29, 2016: Bioorganic Chemistry
https://www.readbyqxmd.com/read/27914067/5q-syndrome-like-features-as-the-first-manifestation-of-myelodysplastic-syndrome-in-a-patient-with-an-unbalanced-whole-arm-translocation-der-5-19-p10-q10
#15
Hiroshi Ureshino, Haruna Kizuka, Kana Kusaba, Haruhiko Sano, Atsujiro Nishioka, Takero Shindo, Yasushi Kubota, Toshihiko Ando, Kensuke Kojima, Shinya Kimura
Derivative (5;19)(p10;q10) [der(5;19)(p10;q10)] is a rare chromosomal abnormality in myelodysplastic syndrome (MDS), and is genetically similar to deletion 5q [del(5q)]. However, MDS with der(5;19)(p10;q10) and 5q- syndrome are generally characterized as distinct subtypes. Here, we report a case of a patient with 5q- syndrome-like features as the first manifestation of MDS with der(5; 19)(p10;q10). A 59-year-old woman was admitted to our hospital for anemia without leukopenia and thrombocytopenia. She had received chemotherapy comprising carboplatin and docetaxel for endometrial cancer eight years before...
December 2, 2016: International Journal of Hematology
https://www.readbyqxmd.com/read/27910026/recurrent-cytogenetic-abnormalities-in-myelodysplastic-syndromes
#16
Meaghan Wall
Cytogenetic analysis has an essential role in diagnosis, classification, and prognosis of myelodysplastic syndromes (MDS). Some cytogenetic abnormalities are sufficiently characteristic of MDS to be considered MDS defining in the appropriate clinical context. MDS with isolated del(5q) is the only molecularly defined MDS subtype. The genes responsible for many aspects of 5q- syndrome, the distinct clinical phenotype associated with this condition, have now been identified. Cytogenetics forms the cornerstone of the most widely adopted prognostic scoring systems in MDS, the international prognostic scoring system (IPSS) and the revised international prognostic scoring system (IPPS-R)...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27884971/progression-in-patients-with-low-and-intermediate1-risk-del-5q-myelodysplastic-syndromes-is-predicted-by-a-limited-subset-of-mutations
#17
Christian Scharenberg, Valentina Giai, Andrea Pellagatti, Leonie Saft, Marios Dimitriou, Monica Jansson, Martin Jädersten, Alf Grandien, Iyadh Douagi, Donna S Neuberg, Katarina LeBlanc, Jacqueline Boultwood, Mohsen Karimi, Sten Eirik W Jacobsen, Petter S Woll, Eva Hellström-Lindberg
A high proportion of patients with lower-risk del(5q) myelodysplastic syndromes (MDS) will respond to treatment with lenalidomide. Median duration of transfusion-independence is 2 years with some long-lasting responses, but almost 40% of patients progress to acute leukemia by 5 years after start of treatment. Mechanisms underlying disease progression other than the well-established finding of small TP53-mutated subclones at diagnosis remain unclear. We studied a longitudinal cohort of 35 low- and intermediate-1-risk del(5q) patients treated with lenalidomide (n=22) or not (n=13) by flow cytometric surveillance of hematopoietic stem and progenitor cells (HSPC) subsets, targeted sequencing of mutational patterns, and changes in the bone marrow microenvironment...
November 24, 2016: Haematologica
https://www.readbyqxmd.com/read/27883945/recent-advances-in-the-treatment-of-lower-risk-non-del-5q-myelodysplastic-syndromes-mds
#18
REVIEW
Antonio Almeida, Pierre Fenaux, Alan F List, Azra Raza, Uwe Platzbecker, Valeria Santini
Patients with lower-risk myelodysplastic syndromes (MDS) are affected primarily by symptoms of chronic anemia and fatigue rather than progression to acute myeloid leukemia. Severe thrombocytopenia, although less common in lower-risk MDS, is associated with increased risk of bleeding. For anemic patients, the principal aim of treatment is to improve anemia and decrease red blood cell transfusions. For transfusion-dependent patients with lower-risk MDS without chromosome 5q deletion [non-del(5q) MDS], there are limited effective treatments...
January 2017: Leukemia Research
https://www.readbyqxmd.com/read/27872730/diagnosis-of-del-5q-mds-14-years-after-jak-2-positive-pv-appearance-complete-remission-of-both-diseases-with-lenalidomide-monotherapy
#19
Antonella Vaccarino, Irene Dogliotti, Fabio Marletto, Andrea Demarchi, Mario Bazzan
This is the report of the clinical case of a patient who presents the association of a JAK-2 positive chronic myeloproliferative neoplasia to a subsequent 5q- myelodysplastic syndrome, developed after about 14 years from the first diagnosis. Patient's symptoms had rapidly worsened, and she became transfusion-dependent. Therapy with low-dose Lenalidomide quickly reduced the splenomegaly and completely brought white cells counts, haemoglobin, and platelets back to normal. After more than one year from the start, blood cell count is still normal...
2016: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/27870387/primary-myelofibrosis-2017-update-on-diagnosis-risk-stratification-and-management
#20
Ayalew Tefferi
: Disease overview: Primary myelofibrosis (PMF) is a myeloproliferative neoplasm (MPN) characterized by stem cell-derived clonal myeloproliferation that is often but not always accompanied by JAK2, CALR or MPL mutation, abnormal cytokine expression, bone marrow fibrosis, anemia, splenomegaly, extramedullary hematopoiesis (EMH), constitutional symptoms, cachexia, leukemic progression and shortened survival. DIAGNOSIS: Diagnosis is based on bone marrow morphology...
December 2016: American Journal of Hematology
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