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myelodysplasia syndrome

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https://www.readbyqxmd.com/read/28160010/the-effect-of-sacral-neuromodulation-on-pregnancy-a-systematic-review
#1
Amr Mahran, Alex Soriano, Ahmed S Safwat, Adonis Hijaz, Sangeeta T Mahajan, Emanuel C Trabuco, Steven W Siegel, Sherif A El-Nashar
INTRODUCTION AND HYPOTHESIS: To evaluate the effects of sacral neuromodulation (SNM) on pregnancy and the impact of delivery on SNM function. METHODS: A systematic search was conducted through January 2016. We selected studies including women who had SNM and a subsequent pregnancy. RESULTS: Out of 2,316, eight studies were included, comprising 22 patients (26 pregnancies). SNM indications were Fowler's syndrome in 11, urinary retention in 6, fecal incontinence in 1, fecal and urinary urgency in 1, overactive bladder in 1, intractable interstitial cystitis in 1, and myelodysplasia in 1...
February 3, 2017: International Urogynecology Journal
https://www.readbyqxmd.com/read/28139104/-animated-biofeedback-for-the-dysfunctional-voiding-syndrome
#2
M Fernández Ibieta, M J Guirao Piñera, G Zambudio Carmona, J Rojas Ticona, I Martínez Castaño, V Villamil, A Sánchez Sánchez, A García López, P Reyes Ríos, J I Ruiz Jiménez
OBJECTIVES: To analyze clinical and electromyographic treatment outcome of dysfunctional voiding (DV) with animated Biofeedback (Bfb). Clinical or electromyographic variables associated with higher success rate were checked. PATIENTS AND METHODS: Cross-sectional study of patients with DV, that in 2010- 2015 followed animated Bfb program. Efficacy was measured with Uroflowmetry, Electromyography (EMG) and validated clinical questionnaire. Inclusion criteria: no myelodysplasia, no anatomical malformations and a minumin of 3 Bfb sessions...
April 10, 2016: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/28130858/novel-recurrent-chromosome-anomalies-in-shwachman-diamond-syndrome
#3
Roberto Valli, Elena De Paoli, Lucia Nacci, Annalisa Frattini, Francesco Pasquali, Emanuela Maserati
BACKGROUND: Two chromosome anomalies are frequent in the bone marrow (BM) of patients with Shwachman-Diamond syndrome (SDS): an isochromosome of the long arm of chromosome 7, i(7)(q10), and an interstitial deletion of the long arm of chromosome 20, del(20)(q). These anomalies are associated with a lower risk of developing myelodysplasia (MDS) and/or acute myeloid leukemia. The chromosome anomalies may be due to an SDS-specific karyotype instability, reflected also by anomalies that are not clonal, but found in single cells in the BM or in peripheral blood (PB)...
January 28, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28062854/sf3b1-mutations-associated-with-myelodysplastic-syndromes-alter-the-fidelity-of-branchsite-selection-in-yeast
#4
Tucker J Carrocci, Douglas M Zoerner, Joshua C Paulson, Aaron A Hoskins
RNA and protein components of the spliceosome work together to identify the 5' splice site, the 3' splice site, and the branchsite (BS) of nascent pre-mRNA. SF3b1 plays a key role in recruiting the U2 snRNP to the BS. Mutations in human SF3b1 have been linked to many diseases such as myelodysplasia (MDS) and cancer. We have used SF3b1 mutations associated with MDS to interrogate the role of the yeast ortholog, Hsh155, in BS selection and splicing. These alleles change how the spliceosome recognizes the BS and alter splicing when nonconsensus nucleotides are present at the -2, -1 and +1 positions relative to the branchpoint adenosine...
January 6, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28024152/ubiquitination-of-hnrnpa1-by-traf6-links-chronic-innate-immune-signaling-with-myelodysplasia
#5
Jing Fang, Lyndsey C Bolanos, Kwangmin Choi, Xiaona Liu, Susanne Christie, Shailaja Akunuru, Rupali Kumar, Dehua Wang, Xiaoting Chen, Kenneth D Greis, Peter Stoilov, Marie-Dominique Filippi, Jaroslaw P Maciejewski, Guillermo Garcia-Manero, Matthew T Weirauch, Nathan Salomonis, Hartmut Geiger, Yi Zheng, Daniel T Starczynowski
Toll-like receptor (TLR) activation contributes to premalignant hematologic conditions, such as myelodysplastic syndromes (MDS). TRAF6, a TLR effector with ubiquitin (Ub) ligase activity, is overexpressed in MDS hematopoietic stem/progenitor cells (HSPCs). We found that TRAF6 overexpression in mouse HSPC results in impaired hematopoiesis and bone marrow failure. Using a global Ub screen, we identified hnRNPA1, an RNA-binding protein and auxiliary splicing factor, as a substrate of TRAF6. TRAF6 ubiquitination of hnRNPA1 regulated alternative splicing of Arhgap1, which resulted in activation of the GTP-binding Rho family protein Cdc42 and accounted for hematopoietic defects in TRAF6-expressing HSPCs...
February 2017: Nature Immunology
https://www.readbyqxmd.com/read/27870069/suspected-myelodysplastic-myeloproliferative-neoplasm-in-a-feline-leukemia-virus-negative-cat
#6
Amy L Weeden, Kyle R Taylor, Scott P Terrell, Alexander E Gallagher, Heather L Wamsley
A 10-year-old castrated Domestic Short-Haired cat was presented to a primary care veterinarian for a wellness examination and laboratory examination for monitoring of diabetes mellitus. The CBC revealed marked thrombocytosis, leukopenia and macrocytic, normochromic anemia. The cat tested negative for FeLV and feline immunodeficiency virus, but was positive for Mycoplasma haemominutum by PCR. Hematologic abnormalities were not responsive to therapy, so a repeat CBC and a bone marrow aspiration for cytology were performed...
December 2016: Veterinary Clinical Pathology
https://www.readbyqxmd.com/read/27800296/klinefelter-syndrome-with-poor-risk-extragonadal-germ-cell-tumor
#7
Jeremy A Konheim, Jonathan A Israel, Scott E Delacroix
Germ cell tumors are the most common malignancy in men aged 15-35 years old, with a small percentage presenting in an extragonadal location. These tumors are seldom identified in the gastrointestinal tract. There is increased risk of extragonadal germ cell tumors (EGCT) in men with Klinefelter syndrome (KS). We report a rare case of a 37-year-old male with KS and EGCT discovered in the duodenum and pelvis. After treatment with Bleomycin-Etoposide-Cisplatin (BEP), he developed growing teratoma syndrome (GTS) and myelodysplasia...
January 2017: Urology Case Reports
https://www.readbyqxmd.com/read/27758818/immunophenotypic-analysis-of-erythroid-dysplasia-in-myelodysplastic-syndromes-a-report-from-the-imdsflow-working-group
#8
Theresia M Westers, Eline M P Cremers, Uta Oelschlaegel, Ulrika Johansson, Peter Bettelheim, Sergio Matarraz, Alberto Orfao, Bijan Moshaver, Lisa Eidenschink Brodersen, Michael R Loken, Denise A Wells, Dolores Subirá, Matthew Cullen, Jeroen G Te Marvelde, Vincent H J van der Velden, Frank W M B Preijers, Sung-Chao Chu, Jean Feuillard, Estelle Guérin, Katherina Psarra, Anna Porwit, Leonie Saft, Robin Ireland, Timothy Milne, Marie C Béné, Birgit I Witte, Matteo G Della Porta, Wolfgang Kern, Arjan A van de Loosdrecht
Current recommendations for diagnosing myelodysplastic syndromes endorse flow cytometry as an informative tool. Most flow cytometry protocols focus on the analysis of progenitor cells and the evaluation of the maturing myelomonocytic lineage. However, one of the most frequently observed features of myelodysplastic syndromes is anemia, which may be associated with dyserythropoiesis. Therefore, analysis of changes in flow cytometry features of nucleated erythroid cells may complement current flow cytometry tools...
February 2017: Haematologica
https://www.readbyqxmd.com/read/27588186/myelodysplastic-syndrome-without-ring-sideroblasts-and-with-janus-kinase-2-gene-mutation-an-unusual-case-report
#9
Maria Helena Ornellas, Monique De França Silva, Cristiana Solza, Stella Beatriz Sampaio De Lucena Gonçalves, Liliane Silva De Almeida, Jackline De Paula Ayres-Silva, Taís Leite Seixas, Elenice Ferreira Bastos, Thomas Liehr, Gilda Alves
Myelodysplastic syndrome (MDS) cases comprise a heterogeneous group of hematological disorders that are characterized by impaired hematopoiesis, with cytopenias of different grades and risk of developing acute myeloid leukemia. MDS may rarely be associated with thrombocytosis. In such cases, myelodysplasia and myeloproliferative disorders may overlap, making correct diagnosis difficult. We herein describe a case of MDS with thrombocytosis, Janus kinase 2 gene mutation-positive and Perls' staining-negative, which was initially classified as essential thrombocythemia (ET)...
September 2016: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/27552991/myelodysplasia-associated-mutations-in-serine-arginine-rich-splicing-factor-srsf2-lead-to-alternative-splicing-of-cdc25c
#10
Lindsey Skrdlant, Jeremy M Stark, Ren-Jang Lin
BACKGROUND: Serine-arginine rich splicing factor 2 (SRSF2) is a protein known for its role in RNA splicing and genome stability. It has been recently discovered that SRSF2, along with other splicing regulators, is frequently mutated in patients with myelodysplastic syndrome (MDS). The most common MDS mutations in SRSF2 occur at proline 95; the mutant proteins are shown to have different RNA binding preferences, which may contribute to splicing changes detected in mutant cells. However, the influence of these SRSF2 MDS-associated mutations on specific splicing events remains poorly understood...
2016: BMC Molecular Biology
https://www.readbyqxmd.com/read/27489795/bone-marrow-immunity-and-myelodysplasia
#11
REVIEW
Claude Lambert, Yuenv Wu, Carmen Aanei
Myelodysplastic syndrome (MDS) is characterized by an ineffective hematopoiesis with production of aberrant clones and a high cell apoptosis rate in bone marrow (BM). Macrophages are in charge of phagocytosis. Innate Immune cells and specific T cells are in charge of immunosurveillance. Little is known on BM cell recruitment and activity as BM aspirate is frequently contaminated with peripheral blood. But evidences suggest an active role of immune cells in protection against MDS and secondary leukemia. BM CD8(+) CD28(-) CD57(+) T cells are directly cytotoxic and have a distinct cytokine signature in MDS, producing TNF-α, IL-6, CCL3, CCL4, IL-1RA, TNFα, FAS-L, TRAIL, and so on...
2016: Frontiers in Oncology
https://www.readbyqxmd.com/read/27427906/context-matters-distinct-disease-outcomes-as-a-result-of-crebbp-hemizygosity-in-different-mouse-bone-marrow-compartments
#12
Ting Zhou, Stephanie N Perez, Ziming Cheng, Marsha C Kinney, Madeleine E Lemieux, Linda M Scott, Vivienne I Rebel
Perturbations in CREB binding protein (CREBBP) are associated with hematopoietic malignancies, including myelodysplastic syndrome (MDS). Mice hemizygous for Crebbp develop myelodysplasia with proliferative features, reminiscent of human MDS/myeloproliferative neoplasm-unclassifiable (MDS/MPN-U), and a proportion goes on to develop acute myeloid leukemia (AML). We have also shown that the Crebbp+/- non-hematopoietic bone marrow microenvironment induces excessive myeloproliferation of wild-type cells. We now report that transplantation of unfractionated Crebbp+/- bone marrow into wild-type recipients resulted in either early-onset AML or late-onset MDS and MDS/MPN-U...
2016: PloS One
https://www.readbyqxmd.com/read/27416819/up-regulation-of-ribosomal-genes-is-associated-with-a-poor-response-to-azacitidine-in-myelodysplasia-and-related-neoplasms
#13
M Monika Belickova, Michaela Dostalova Merkerova, Hana Votavova, Jan Valka, Jitka Vesela, Barbora Pejsova, Hana Hajkova, Jiri Klema, Jaroslav Cermak, Anna Jonasova
Azacitidine (AZA) is a hypomethylating drug used to treat disorders associated with myelodysplasia and related neoplasms. Approximately 50 % of patients do not respond to AZA and have very poor outcomes. There is thus great interest in identifying predictive biomarkers for AZA responsiveness. We searched for specific genes whose expression level was associated with response status. Using microarrays, we analyzed gene expression patterns in bone marrow CD34(+) cells in serial samples from 32 patients with myelodysplastic syndromes, chronic myelomonocytic leukemia, and acute myeloid leukemia with myelodysplasia-related changes before and during the AZA therapy...
November 2016: International Journal of Hematology
https://www.readbyqxmd.com/read/27387988/assessment-of-myeloid-and-monocytic-dysplasia-by-flow-cytometry-in-de-novo-aml-helps-define-an-aml-with-myelodysplasia-related-changes-category
#14
Olga K Weinberg, Robert P Hasserjian, Betty Li, Olga Pozdnyakova
AIMS: In recent years, multiparameter flow cytometry has been increasingly recognised as an important tool in diagnosis of myelodysplastic syndrome and acute myeloid leukaemia (AML). Assessment of myeloid and monocytic 'immunophenotypic' dysplasia by flow cytometry in de novo AML has not been evaluated. METHODS: 97 cases of de novo AML cases were identified and reviewed by three hematopathologists. 'Immunophenotypic' dysplasia was assessed on blasts, monocytes and granulocytes by mean fluorescence intensity...
February 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/27356643/-clinical-analysis-of-sweet-syndrome-with-myelodysplasia-syndrome
#15
Y N Wang, J L Zhuang, W L Zhao, K Fang, Y H Liu, H Z Jin, L Li
OBJECTIVE: To study the clinical, histopathological and therapeutic features of Sweet syndrome with myelodysplastic syndrome (MDS). METHODS: The clinical data of 3 patients with Sweet syndrome and MDS diagnosed at Peking Union Medical College Hospital between October 1988 and November 2015 were reviewed. The laboratory test results, histopathological findings, and therapeutic regimens of these patients were analyzed retrospectively. RESULTS: The three cases were 29, 49 and 49 years old, respectively, including 2 females and 1 male...
June 14, 2016: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/27318442/double-minute-chromosomes-in-acute-myeloid-leukemia-myelodysplastic-syndromes-and-chronic-myelomonocytic-leukemia-are-associated-with-micronuclei-myc-or-mll-amplification-and-complex-karyotype
#16
Yang O Huh, Guilin Tang, Sameer S Talwalkar, Joseph D Khoury, Maro Ohanian, Carlos E Bueso-Ramos, Lynne V Abruzzo
Double minute chromosomes (dmin) are small, paired chromatin bodies that lack a centromere and represent a form of extrachromosomal gene amplification. Dmin are rare in myeloid neoplasms and are generally associated with a poor prognosis. Most studies of dmin in myeloid neoplasms are case reports or small series. In the current study, we present the clinicopathologic and cytogenetic features of 22 patients with myeloid neoplasms harboring dmin. These neoplasms included acute myeloid leukemia (AML) (n = 18), myelodysplastic syndrome (MDS) (n = 3), and chronic myelomonocytic leukemia (CMML) (n = 1)...
July 2016: Cancer Genetics
https://www.readbyqxmd.com/read/27311589/withaferin-a-suppresses-the-growth-of-myelodysplasia-and-leukemia-cell-lines-by-inhibiting-cell-cycle-progression
#17
Shuichiro Okamoto, Takayuki Tsujioka, Shin-Ichiro Suemori, Jun-Ichiro Kida, Toshinori Kondo, Yumi Tohyama, Kaoru Tohyama
Treatment outcomes for acute myeloid leukemia and myelodysplastic syndromes (MDS) remain unsatisfactory despite progress in various types of chemotherapy and hematopoietic stem cell transplantation. Therefore, there is a need for the development of new treatment options. We investigated the growth-suppressive effects of withaferin A (WA), a natural plant steroidal lactone, on myelodysplasia and leukemia cell lines. WA exhibited growth-suppressive effects on the cell lines, MDS-L, HL-60, THP-1, Jurkat and Ramos, and induction of cell cycle arrest at G2/M phase at relatively low doses...
September 2016: Cancer Science
https://www.readbyqxmd.com/read/27259979/gata2-regulates-dendritic-cell-differentiation
#18
Koichi Onodera, Tohru Fujiwara, Yasushi Onishi, Ari Itoh-Nakadai, Yoko Okitsu, Noriko Fukuhara, Kenichi Ishizawa, Ritsuko Shimizu, Masayuki Yamamoto, Hideo Harigae
Dendritic cells (DCs) are critical immune response regulators; however, the mechanism of DC differentiation is not fully understood. Heterozygous germ line GATA2 mutations induce GATA2-deficiency syndrome, characterized by monocytopenia, a predisposition to myelodysplasia/acute myeloid leukemia, and a profoundly reduced DC population, which is associated with increased susceptibility to viral infections, impaired phagocytosis, and decreased cytokine production. To define the role of GATA2 in DC differentiation and function, we studied Gata2 conditional knockout and haploinsufficient mice...
July 28, 2016: Blood
https://www.readbyqxmd.com/read/27195147/transfusion-thresholds-quality-of-life-and-current-approaches-in-myelodysplastic-syndromes
#19
REVIEW
Ioannis Koutsavlis
Hemoglobin thresholds and triggers for blood transfusions have changed over the years moving from a higher to a lower level. This review article summarizes the current evidence of transfusion thresholds in the hospitalized as well as in the outpatient setting and particularly in myelodysplasia. Fatigue is the main reported symptom in this group of patients and current clinical trials are looking for a more liberal approach of red cell transfusion and the effect on quality of life as opposed to the restrictive strategy used in the critical care setting...
2016: Anemia
https://www.readbyqxmd.com/read/27182967/samd9-mutations-cause-a-novel-multisystem-disorder-mirage-syndrome-and-are-associated-with-loss-of-chromosome-7
#20
Satoshi Narumi, Naoko Amano, Tomohiro Ishii, Noriyuki Katsumata, Koji Muroya, Masanori Adachi, Katsuaki Toyoshima, Yukichi Tanaka, Ryuji Fukuzawa, Kenichi Miyako, Saori Kinjo, Shouichi Ohga, Kenji Ihara, Hirosuke Inoue, Tadamune Kinjo, Toshiro Hara, Miyuki Kohno, Shiro Yamada, Hironaka Urano, Yosuke Kitagawa, Koji Tsugawa, Asumi Higa, Masakazu Miyawaki, Takahiro Okutani, Zenro Kizaki, Hiroyuki Hamada, Minako Kihara, Kentaro Shiga, Tetsuya Yamaguchi, Manabu Kenmochi, Hiroyuki Kitajima, Maki Fukami, Atsushi Shimizu, Jun Kudoh, Shinsuke Shibata, Hideyuki Okano, Noriko Miyake, Naomichi Matsumoto, Tomonobu Hasegawa
Adrenal hypoplasia is a rare, life-threatening congenital disorder. Here we define a new form of syndromic adrenal hypoplasia, which we propose to term MIRAGE (myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy) syndrome. By exome sequencing and follow-up studies, we identified 11 patients with adrenal hypoplasia and common extra-adrenal features harboring mutations in SAMD9. Expression of the wild-type SAMD9 protein, a facilitator of endosome fusion, caused mild growth restriction in cultured cells, whereas expression of mutants caused profound growth inhibition...
July 2016: Nature Genetics
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