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https://www.readbyqxmd.com/read/28437579/mosaic-trisomy-1q-a-recurring-chromosome-anomaly-that-is-a-diagnostic-challenge-and-is-associated-with-a-fryns-like-phenotype
#1
Kathleen M Bone, Judy E Chernos, Renee Perrier, A Micheil Innes, Francois P Bernier, Ross McLeod, Mary Ann Thomas
OBJECTIVE: Trisomy of the long arm of chromosome 1 is a very rare cytogenetic anomaly that is difficult to diagnose due to tissue-limited mosaicism. This study aimed to further characterize the prenatal and postnatal findings associated with this anomaly, including the first reported chromosomal microarray finding. METHOD: This is a retrospective study of 6 cases of mos 46,X,der(Y)t(Y;1)(q12;q21)/46,XY diagnosed both pre- and postnatally. Detailed clinical features and pregnancy outcome were documented...
April 24, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28437559/chromosomal-evolution-in-large-pelagic-oceanic-apex-predators-the-barracudas-sphyraenidae-percomorpha
#2
R X Soares, M B Cioffi, L A C Bertollo, A T Borges, G W W F Costa, W F Molina
Sphyraena (barracudas) represents the only genus of the Sphyraenidae family and includes 27 species distributed into the tropical and subtropical oceanic regions. These pelagic predators can reach large sizes and, thus, attracting significant interest from commercial and sport fishing. Evolutionary data for this fish group, as well its chromosomal patterns, are very incipient. In the present study, the species Sphyraena guachancho, S. barracuda, and S. picudilla were analyzed under conventional (Giemsa staining, C-banding, and Ag-NOR) and molecular (CMA3 banding, and in situ hybridization with 18S rDNA, 5S rDNA, and telomeric probes) cytogenetic methods...
April 20, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28436581/pediatric-acute-lymphoblastic-leukemia-with-t-1-19-tcf3-pbx1-in-taiwan
#3
Hsiu-Ju Yen, Shih-Hsiang Chen, Tsung-Yen Chang, Chao-Ping Yang, Dong-Tsamn Lin, Iou-Jih Hung, Kai-Hsin Lin, Jiann-Shiuh Chen, Chih-Cheng Hsiao, Tai-Tsung Chang, Te-Kao Chang, Ching-Tien Peng, Ming-Tsan Lin, Tang-Her Jaing, Hsi-Che Liu, Shiann-Tarng Jou, Meng-Yao Lu, Chao-Neng Cheng, Jiunn-Ming Sheen, Shyh-Shin Chiou, Giun-Yi Hung, Kang-Hsi Wu, Ting-Chi Yeh, Shih-Chung Wang, Rong-Long Chen, Hsiu-Hao Chang, Yung-Li Yang, Shu-Huey Chen, Shin-Nan Cheng, Yu-Hsiang Chang, Bow-Wen Chen, Yuh-Lin Hsieh, Fang-Liang Huang, Wan-Ling Ho, Jinn-Li Wang, Chia-Yau Chang, Yu-Hua Chao, Pei-Chin Lin, Yu-Chieh Chen, Yu-Mei Liao, Tung-Huei Lin, Lee-Yung Shih, Der-Cherng Liang
BACKGROUND: In childhood acute lymphoblastic leukemia (ALL), t(1;19)(q23;p13.3) with TCF3-PBX1 fusion is one of the most frequent translocations. Historically, it has been associated with poor prognosis. Intensive treatment, however, has improved its outcome. We determined the outcome of children with this genotype treated with contemporary intensive chemotherapy in Taiwan. PROCEDURE: In Taiwan Pediatric Oncology Group 2002 ALL studies, genotypes were determined by cytogenetic analysis and/or reverse transcriptase polymerase chain reaction assay...
April 24, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28435324/symptomatic-central-nervous-system-involvement-in-adult-patients-with-acute-myeloid-leukemia
#4
Nael Alakel, Friedrich Stölzel, Brigitte Mohr, Michael Kramer, Uta Oelschlägel, Christoph Röllig, Martin Bornhäuser, Gerhard Ehninger, Markus Schaich
INTRODUCTION: Acute myeloid leukemia (AML) rarely involves the central nervous system (CNS). Little is known about the clinical course in adult AML patients since most studies examined pediatric patients. Therefore, this study analyzed the data of patients treated in three prospective trials of the "Study Alliance Leukemia" (SAL) study group for CNS involvement. METHODS: In all, 3,261 AML patients included in the prospective AML96, AML2003, and AML60+ trials of the SAL study group were analyzed...
2017: Cancer Management and Research
https://www.readbyqxmd.com/read/28434254/association-of-gstt1-null-xpd-751%C3%A2-cc-and-xpc-939%C3%A2-cc-genotypes-with-increased-levels-of-genomic-damage-among-hospital-pathologists
#5
Alfredo Santovito, Marta Delsoglio, Eleonora Manitta, Giulia Picco, Giulia Meschiati, Michela Chiarizio, Claudio Gendusa, Piero Cervella
CONTEXT: Hospital workers are at risk for genotoxic damage following occupationally exposure to xenobiotics. Pathologists are exposed to chemicals during their use in health care environments, particularly throughout inhalation of airborne agents, absorption through skin or contact with the patient's body fluids. OBJECTIVE: We evaluated the level of genomic damage in a sample of 61 hospital pathologists (occupationally exposed to antineoplastic drugs and sterilizing agents) and 60 control subjects...
April 24, 2017: Biomarkers: Biochemical Indicators of Exposure, Response, and Susceptibility to Chemicals
https://www.readbyqxmd.com/read/28432728/expansion-of-the-clinical-phenotype-of-the-distal-10q26-3-deletion-syndrome-to-include-ataxia-and-hyperemia-of-the-hands-and-feet
#6
Melanie Lacaria, Myriam Srour, Jacques L Michaud, Asif Doja, Elka Miller, Jeremy Schwartzentruber, Claire Goldsmith, Jacek Majewski, Kym M Boycott
Distal deletion of the long arm of chromosome 10 is associated with a dysmorphic craniofacial appearance, microcephaly, behavioral issues, developmental delay, intellectual disability, and ocular, urogenital, and limb abnormalities. Herein, we present clinical, molecular, and cytogenetic investigations of four patients, including two siblings, with nearly identical terminal deletions of 10q26.3, all of whom have an atypical presentation of this syndrome. Their prominent features include ataxia, mild-to-moderate intellectual disability, and hyperemia of the hands and feet, and they do not display many of the other features commonly associated with deletions of this region...
April 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28432453/the-influence-of-oxo-bridged-binuclear-gold-iii-complexes-on-na-k-atpase-activity-a-joint-experimental-and-theoretical-approach
#7
Aleksandra M Bondžić, Mirjana B Čolović, Goran V Janjić, Božidarka Zarić, Sandra Petrović, Danijela Z Krstić, Tiziano Marzo, Luigi Messori, Vesna M Vasić
The in vitro effects of oxo-bridged binuclear gold(III) complexes, i.e., [(bipy2Me)2Au2(μ-O)2][PF6]2 (Auoxo6), Au2[(bipydmb-H)2(μ-O)][PF6] (Au2bipyC) and [Au2(phen(2Me))2(μ-O)2](PF6)2 (Au2phen) on Na/K-ATPase, purified from the porcine cerebral cortex, were investigated. All three studied gold complexes inhibited the enzyme activity in a concentration-dependent manner achieving IC50 values in the low micromolar range. Kinetic analysis suggested an uncompetitive mode of inhibition for Auoxo6 and Au2bipyC, and a mixed type one for Au2phen...
April 21, 2017: Journal of Biological Inorganic Chemistry: JBIC
https://www.readbyqxmd.com/read/28431992/genomic-answers-for-recurrent-spontaneous-abortion-in-saudi-arabia-an-array-comparative-genomic-hybridization-approach
#8
Sajjad Karim, Hasan Salleh Jamal, Abdullraheem Rouzi, Mohammed Salleh M Ardawi, Hans-Juergen Schulten, Zeenat Mirza, Nuha A Alansari, Maha M Al-Quaiti, Heba Abusamra, Muhammad Imran Naseer, Rola Turki, Adeel Gulzar Chaudhary, Mamdooh Gari, Adel Mohammed Abuzenadah, Mohammed Hussain Al-Qhatani
To study the genomics/genetic factors associated with recurrent spontaneous abortion (RSA), as ∼50% of RSA are unexplained. However, chromosome abnormalities have been reported to play major role in RSA. We performed whole genome array-CGH based genomic analysis of forty four Saudi RSA patients to identify potential molecular and chromosomal abnormalities. We identified a total of 845 alterations, usually not detected by classic cytogenetic methods, in different genomic regions using a cut off value of -0...
April 18, 2017: Reproductive Biology
https://www.readbyqxmd.com/read/28430957/cd25-expression-in-b-lymphoblastic-leukemia-lymphoma-predicts-t-9-22-q34-q11-philadelphia-chromosome-translocation-ph-and-is-associated-with-residual-disease-in-ph-negative-patients
#9
Pu Chen, Andrew Chu, Hamid Zia, Prasad Koduru, Robert Collins, Naomi Winick, Franklin Fuda, Weina Chen
Objectives: CD25 expression is associated with t(9;22)(q34;q11)/Philadelphia chromosome translocation (Ph); BCR-ABL1 rearrangement in B lymphoblastic leukemia/lymphoma (B-LL). However, the significance of CD25 expression in Ph negative (Ph-) B-LL regarding residual disease (RD) and genetic abnormalities is largely unknown. Methods: CD25 expression by flow cytometry (FC) was correlated with Ph status in 95 newly diagnosed B-LL patients and with RD status in day 29 marrow measured by FC in the context of cytogenetic risk stratification in Ph- patients...
November 1, 2016: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28429426/age-related-health-care-disparities-in-multiple-myeloma
#10
Mathieu Puyade, Gautier Defossez, François Guilhot, Xavier Leleu, Pierre Ingrand
Age is a well-known factor in solid tumours linked to lower adherence to guidelines. Scarce data exist for haematologic malignancies such as multiple myeloma (MM). The aim of the study was to investigate the relationships among age, adherence to guidelines in MM, and overall survival (OS).The Poitou-Charentes cancer registry has exhaustively registered incident cases of MM from 2008 to 2010. Diagnosis, staging, prognosis, and first-line treatment were compared to the international guidelines. Three hundred and sixty-seven patients aged 36 to 93 years were included...
April 21, 2017: Hematological Oncology
https://www.readbyqxmd.com/read/28428897/acute-myeloid-leukemia-with-basophilic-differentiation-transformed-from-myelodysplastic-syndrome
#11
Yasuhiro Tanaka, Atsushi Tanaka, Akiko Hashimoto, Kumiko Hayashi, Isaku Shinzato
Myelodysplastic syndrome (MDS) terminally transforms to acute myeloid leukemia (AML) or bone marrow failure syndrome, but acute myeloid leukemia with basophilic differentiation has been rarely reported. An 81-year-old man was referred to our department for further examination of intermittent fever and normocytic anemia during immunosuppressive treatment. Chromosomal analysis showed additional abnormalities involving chromosome 7. He was diagnosed as having MDS. At the time of diagnosis, basophils had not proliferated in the bone marrow...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/28428668/prognostic-parameters-of-acute-myeloid-leukaemia-at-presentation
#12
Azra Jahic, Ermina Iljazovic, Samira Hasic, Aida Custovic Arnautovic, Damir Sabitovic, Semir Mesanovic, Haris Sahovic, Vlastimir Simendic
INTRODUCTION: The treatment response and outcome in acute myeloid leukaemia (AML) is heterogeneous. AIM: To analyze the prognostic parameters of AML at presentation. METHODS: The total sample of 44 AML patients was analyzed on the basis of age <55 and ≥55 years, sex, WBC count <50x10/(9)/l and ≥50x10/(9)/l, the Hb concentration <100 g/l and ≥100 g/l, PLT count <100x10/(9)/l and ≥100x10/(9)/l, Karnofsky score <60% and >60%, cytogenetics, CD56 expression, morphological type and types of treatment (standard and reduced induction chemotherapy, high-dose chemotherapy/stem cell transplantation - autologous and HLA matched, related, allogeneic, together and separately)...
February 2017: Medical Archives
https://www.readbyqxmd.com/read/28427346/karyotypic-evolution-of-the-medicago-complex-sativa-caerulea-falcata-inferred-from-comparative-cytogenetic-analysis
#13
Feng Yu, Haiqing Wang, Yanyan Zhao, Ruijuan Liu, Quanwen Dou, Jiangli Dong, Tao Wang
BACKGROUND: Polyploidy plays an important role in the adaptation and speciation of plants. The alteration of karyotype is a significant event during polyploidy formation. The Medicago sativa complex includes both diploid (2n = 2× = 16) and tetraploid (2n = 2× = 32) subspecies. The tetraploid M. ssp. sativa was regarded as having a simple autopolyploid origin from diploid ssp. caerulea, whereas the autopolyploid origin of tetraploid ssp. falcata from diploid form ssp. falcata is still in doubt...
April 21, 2017: BMC Evolutionary Biology
https://www.readbyqxmd.com/read/28427204/an-extensive-molecular-cytogenetic-characterization-in-high-risk-chronic-lymphocytic-leukemia-identifies-karyotype-aberrations-and-tp53-disruption-as-predictors-of-outcome-and-chemorefractoriness
#14
Gian Matteo Rigolin, Luca Formigaro, Maurizio Cavallari, Francesca Maria Quaglia, Enrico Lista, Antonio Urso, Emanuele Guardalben, Sara Martinelli, Elena Saccenti, Cristian Bassi, Laura Lupini, Maria Antonella Bardi, Eleonora Volta, Elisa Tammiso, Aurora Melandri, Massimo Negrini, Francesco Cavazzini, Antonio Cuneo
We investigated whether karyotype analysis and mutational screening by next generation sequencing could predict outcome in 101 newly diagnosed chronic lymphocytic leukemia patients with high-risk features, as defined by the presence of unmutated IGHV gene and/or 11q22/17p13 deletion by FISH and/or TP53 mutations. Cytogenetic analysis showed favorable findings (normal karyotype and isolated 13q14 deletion) in 30 patients, unfavorable (complex karyotype and/or 17p13/11q22 deletion) in 34 cases and intermediate (all other abnormalities) in 36 cases...
March 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/28422191/mixed-phenotype-acute-leukemia-state-of-the-art-of-the-diagnosis-classification-and-treatment
#15
Martin Cernan, Tomas Szotkowski, Zuzana Pikalova
Mixed-phenotype acute leukemia (MPAL) is a heterogeneous group of hematopoietic malignancies in which blasts show markers of multiple developmental lineages and cannot be clearly classified as acute myeloid or lymphoblastic leukemias. Historically, various names and classifications were used for this rare entity accounting for 2-5% of all acute leukemias depending on the diagnostic criterias used. The currently valid classification of myeloid neoplasms and acute leukemia published by the World Health Organization (WHO) in 2016 refers to this group of diseases as MPAL...
April 18, 2017: Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia
https://www.readbyqxmd.com/read/28421151/extramedullary-relapse-in-a-cml-patient-after-allogeneic-stem-cell-transplantation
#16
Asu Fergun Yilmaz, Nur Soyer, Nazan Ozsan, Seckin Cagirgan, Ajda Gunes, Melda Comert, Fahri Sahin, Guray Saydam, Nur Selvi Gunel, Filiz Vural
Myeloid or granulocytic sarcoma (GS) is a tumoral lesion consisting of immature granulocytic cells. It is a rare entity during the course of CML patients especially after allogeneic stem cell transplantation (SCT). Relapse without bone marrow involvement is much rarer. We report a case of CML patient who relapsed with isolated granulocytic sarcoma after allogeneic SCT during cytogenetic and molecular remission. 28-year-old male was diagnosed as CML and allogeneic SCT was performed because of refractory disease to tyrosine kinase inhibitors...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/28420865/a-novel-variant-t-1-22-translocation-ins-22-1-q13-p13p31-in-a-child-with-acute-megakaryoblastic-leukemia
#17
Elizabeth Margolskee, Jad Saab, Julia T Geyer, Alexander Aledo, Susan Mathew
BACKGROUND The reciprocal translocation t(1;22)(p13;q13) involving the RBM15 and MKL1 genes is an uncommon abnormality that occurs in a subset of acute myeloid leukemia with megakaryocytic differentiation (AMKL). Variant translocations have been infrequently described in this subtype of leukemia. CASE REPORT We describe the case of a 3-month-old girl who presented with progressive abdominal distension, vomiting, and fever. Although there was no morphologic evidence of leukemia in the bone marrow, cytogenetic and metaphase fluorescence in situ hybridization analysis identified an insertion of p13p31 bands of chromosome 1 onto the long arm of chromosome 22, resulting in the karyotype: 46,XX,ins(22;1)(q13;p13p31)...
April 19, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28420523/molecular-cytogenetic-characterization-and-prenatal-diagnosis-of-familial-xp22-33-microdeletion-encompassing-short-stature-homeobox-gene-in-a-male-fetus-with-a-favorable-outcome
#18
Chih-Ping Chen, Tsang-Ming Ko, Liang-Kai Wang, Shuan-Pei Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chien-Wen Yang, Dai-Dyi Town, Meng-Shan Lee, Wayseen Wang
No abstract text is available yet for this article.
April 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28420516/prenatal-diagnosis-and-molecular-cytogenetic-characterization-of%C3%A2-low-level-mosaic-trisomy-12-at-amniocentesis-associated-with%C3%A2-a%C3%A2-favorable-pregnancy-outcome
#19
Chih-Ping Chen, Chen-Ju Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Wen Pan, Chien-Wen Yang, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis of low-level mosaic trisomy 12. CASE REPORT: A 40-year-old woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age, which revealed a karyotype of 47,XX,+12[5]/46,XX[24] consistent with 17.2% (5/29) mosaicism for trisomy 12. Repeat amniocentesis performed at 21 weeks of gestation revealed a karyotype of 47,XX,+12[4]/46,XX[6] consistent with 40% (4/10) mosaicism for trisomy 12. Interphase fluorescence in situ hybridization (FISH) on 112 uncultured amniocytes detected 23 cells with trisomy 12 consistent with 20...
April 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28420515/prenatal-diagnosis-and-molecular-cytogenetic-characterization-of-mosaicism-for-a-small-supernumerary-marker-chromosome-derived-from-chromosome-2
#20
Chih-Ping Chen, Ming Chen, Shun-Ping Chang, Fang-Yu Hung, Meng-Ju Lee, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Chi Lee, Dai-Dyi Town, Wen-Lin Chen, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 2. CASE REPORT: A 42-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XY,+mar[10]/46,XY[12]. The parental karyotypes were normal. Array comparative genomic hybridization analysis of the DNA extracted from cultured amniocytes revealed no genomic imbalance...
April 2017: Taiwanese Journal of Obstetrics & Gynecology
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