keyword
MENU ▼
Read by QxMD icon Read
search

Cytogenetic

keyword
https://www.readbyqxmd.com/read/28239418/-classical-cytogenetics-is-not-equal-to-banding-cytogenetics
#1
Thomas Liehr
BACKGROUND: Human cytogenetics is a field suffering from the argumentation that it 'is nowadays really outdated and to be replaced by molecular high throughput approaches'. Thus, it is to be expected that non-cytogeneticists do mistakes in nomenclature of cytogenetics, which is exposed to repeated reforms, like e.g. recently the now hardly manageable and readable nomenclature for array-comparative genomic hybridization. RESULTS: An unexpected nomenclature problem becomes more and more obvious in human cytogenetics - it seems to become difficult to understand how and when to use the designations "classical cytogenetics" or "banding cytogenetics"...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28238098/a-new-method-for-real-time-evaluation-of-pepsin-digestion-of-paraffin-embedded-tissue-sections-prior-to-fluorescence-in-situ-hybridisation
#2
Xiaojing Teng, Shuhong Zhang, Wei Liu, Kuo Bi, Lei Zhang
Fluorescence in situ hybridisation (FISH) is a molecular cytogenetic technique, which is regularly applied to formalin-fixed paraffin-embedded (FFPE) tissue sections of a variety of cancers to assess chromosomal aberrations. However, high-quality FISH requires optimal enzymatic digestion, and insufficient digestion is not noted until the hybridisation signals are evaluated in the fluorescence microscope. As a consequence, FISH results may be unreliable, and the experiment might have to be repeated. To solve this problem, we developed a new method for real-time evaluation of enzymatic tissue digestion...
February 25, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28237043/tuberous-sclerosis-complex-and-polycystic-kidney-disease-contiguous-gene-syndrome-with-moyamoya-disease
#3
Jonathan Lai, Lopa Modi, Daryl Ramai, Matthew Tortora
Tuberous sclerosis complex (TSC) and autosomal dominant polycystic kidney disease (ADPKD) are two diseases sharing close genetic loci on chromosome 16. Due to contiguous gene syndrome, also known as contiguous gene deletion syndrome, the proximity of TSC2 and PKD1 genes increases the risk of co-deletion resulting in a shared clinical presentation. Furthermore, Moyamoya disease (MMD) is a rare vaso-occlusive disease in the circle of Willis. We present the first case of TSC2/PKD1 contiguous gene syndrome in a patient with MMD along with detailed histopathologic, radiologic, and cytogenetic analyses...
January 3, 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28236629/increased-prevalence-of-bicuspid-aortic-valve-in-turner-syndrome-links-with-karyotype-the-crucial-importance-of-detailed-cardiovascular-screening
#4
Eva Klásková, Jiřina Zapletalová, Sabina Kaprálová, Marta Šnajderová, Jan Lebl, Zbyněk Tüdös, Jan Pavlíček, Jana Černá, Vladimír Mihál, Veronika Stará, Martin Procházka
BACKGROUND: Bicuspid aortic valve (BAV) represents one of the strongest risk factors for aortic dissection in Turner syndrome (TS). An exact relation between the occurrence of BAV and a particular karyotype has not been established yet. The aim of this study was to determine the association between karyotype and prevalence of BAV. METHODS: Sixty-seven TS patients aged between 6.6 and 32.5 years underwent cardiac magnetic resonance imaging (MRI) study. They were divided into four cytogenetic subgroups-45,X karyotype (n=27); 45,X/46,XX mosaicism (n=17); structural abnormalities of the X chromosome (n=10); and 45,X/structural abnormality of the X chromosome mosaicism (n=13)...
February 25, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28236351/genomic-array-as-compared-to-karyotyping-in-myelodysplastic-syndromes-in-a-prospective-clinical-trial
#5
Marian J Stevens-Kroef, Daniel Olde Weghuis, Najat ElIdrissi-Zaynoun, Bert van der Reijden, Eline M P Cremers, Canan Alhan, Theresia M Westers, Heleen A Visser-Wisselaar, Dana A Chitu, Sonia M Cunha, Edo Vellenga, Saskia K Klein, Pierre Wijermans, Georgine E de Greef, M R Schaafsma, Petra Muus, Gert J Ossenkoppele, Arjan A van de Loosdrecht, Joop H Jansen
Karyotyping is considered as the gold standard in the genetic subclassification of myelodysplastic syndrome (MDS). Oligo/SNP-based genomic array profiling is a high-resolution tool that also enables genome wide analysis. We compared karyotyping with oligo/SNP-based array profiling in 104 MDS patients from the HOVON-89 study. Oligo/SNP-array identified all cytogenetically defined genomic lesions, except for subclones in two cases and balanced translocations in three cases. On the other hand oligo/SNP-based genomic array profiling had a higher success rate, showing 55 abnormal cases, while an abnormal karyotype was found in only 35 patients...
February 25, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28236108/a-family-study-of-complex-chromosome-rearrangement-involving-chromosomes-1-8-and-11-and-its-reproductive-consequences
#6
Natalia Trpchevska, Ivanka Dimova, Tatyana Arabadji, Tanya Milachich, Svetlana Angelova, Magdalena Dimitrova, Mariela Hristova-Savova, Petya Andreeva, Tania Timeva, Atanas Shterev
Complex chromosome translocations are structural chromosomal rearrangements involving three or more chromosomes and more than two breakpoints. A complex chromosome rearrangement was detected in a phenotypically normal female patient that was referred to the hospital for genetic counseling due to reproductive failure. A cytogenetic evaluation was performed, according to standard method of chromosomal analysis, using G-banding technique. The patient's karyotype showed a balanced complex chromosome rearrangement (BCCR) involving chromosomes 1, 8, and 11 with three breakpoints 1p31, 8q13, and 11q23...
February 24, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28236065/glioblastoma-spheroids-produce-infiltrative-gliomas-in-the-rat-brainstem
#7
Zhiping Zhou, Neal Luther, Ranjodh Singh, John A Boockvar, Mark M Souweidane, Jeffrey P Greenfield
PURPOSE: Diffuse intrinsic pontine glioma (DIPG) is universally fatal without proven therapy other than radiation therapy for palliation. Representative animal models will play an essential role in the preclinical stage of future therapy development. To address the shortage of representative models, we created a novel infiltrative brainstem glioma model in rats based on glioblastoma spheroids. METHODS: Cells dissociated from glioblastoma spheroids grown from surgical specimens were implanted into the brainstem of NIH nude rats...
February 24, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28234344/mutational-landscape-reflects-the-biological-continuum-of-plasma-cell-dyscrasias
#8
A Rossi, M Voigtlaender, S Janjetovic, B Thiele, M Alawi, M März, A Brandt, T Hansen, J Radloff, G Schön, U Hegenbart, S Schönland, C Langer, C Bokemeyer, M Binder
We subjected 90 patients covering a biological spectrum of plasma cell dyscrasias (monoclonal gammopathy of undetermined significance (MGUS), amyloid light-chain (AL) amyloidosis and multiple myeloma) to next-generation sequencing (NGS) gene panel analysis on unsorted bone marrow. A total of 64 different mutations in 8 genes were identified in this cohort. NRAS (28.1%), KRAS (21.3%), TP53 (19.5%), BRAF (19.1%) and CCND1 (8.9%) were the most commonly mutated genes in all patients. Patients with non-myeloma plasma cell dyscrasias showed a significantly lower mutational load than myeloma patients (0...
February 24, 2017: Blood Cancer Journal
https://www.readbyqxmd.com/read/28233318/targeted-prenatal-diagnosis-of-pallister-killian-syndrome
#9
Anna Kucińska-Chahwan, Julia Bijok, Sylwia Dąbkowska, Anna Jóźwiak, Alicja Ilnicka, Beata Nowakowska, Grzegorz Jakiel, Tomasz Roszkowski
OBJECTIVE: To present five new cases of prenatally diagnosed Pallister-Killian syndrome and to propose an approach for a targeted diagnosis. METHOD: We retrospectively analyzed ultrasound findings and cytogenetic results in Pallister-Killian syndrome. We also searched through dysmorphology databases for features occurring in PKS that could potentially be seen in prenatal ultrasound examination. RESULTS: On the basis of collected data frequent and distinctive features in fetuses with PKS were established...
February 23, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28232835/mesenchymal-stem-cells-support-survival-and-proliferation-of-primary-human-acute-myeloid-leukemia-cells-through-heterogeneous-molecular-mechanisms
#10
Annette K Brenner, Ina Nepstad, Øystein Bruserud
Acute myeloid leukemia (AML) is a bone marrow malignancy, and various bone marrow stromal cells seem to support leukemogenesis, including osteoblasts and endothelial cells. We have investigated how normal bone marrow mesenchymal stem cells (MSCs) support the in vitro proliferation of primary human AML cells. Both MSCs and primary AML cells show constitutive release of several soluble mediators, and the mediator repertoires of the two cell types are partly overlapping. The two cell populations were cocultured on transwell plates, and MSC effects on AML cells mediated through the local cytokine/soluble mediator network could thus be evaluated...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28232783/complex-mosaic-ring-chromosome-11-associated-with-hemizygous-loss-of-8-6-mb-of-11q24-2qter-in-atypical-jacobsen-syndrome
#11
Alexandra Galvão Gomes, Carlos H Paiva Grangeiro, Luiz R Silva, Flávia G Oliveira-Gennaro, Ciro S Pereira, Tatiana M Joaquim, Rodrigo A Panepucci, Jeremy A Squire, Lucia Martelli
Jacobsen syndrome (JBS) is a contiguous gene deletion syndrome involving terminal chromosome 11q. The haploinsufficiency of multiple genes contributes to the overall clinical phenotype, which can include the variant Paris-Trousseau syndrome, a transient thrombocytopenia related to FLI1 hemizygous deletion. We investigated a boy with features of JBS using classic cytogenetic methods, FISH and high-resolution array CGH. The proband was found to have a mosaic ring chromosome 11 resulting in a hemizygous 11q terminal deletion of 8...
January 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28231025/rabit-ii-implementation-of-a-high-throughput-micronucleus-biodosimetry-assay-on-commercial-biotech-robotic-systems
#12
Mikhail Repin, Sergey Pampou, Charles Karan, David J Brenner, Guy Garty
We demonstrate the use of high-throughput biodosimetry platforms based on commercial high-throughput/high-content screening robotic systems. The cytokinesis-block micronucleus (CBMN) assay, using only 20 μl whole blood from a fingerstick, was implemented on a PerkinElmer cell::explorer and General Electric IN Cell Analyzer 2000. On average 500 binucleated cells per sample were detected by our FluorQuantMN software. A calibration curve was generated in the radiation dose range up to 5.0 Gy using the data from 8 donors and 48,083 binucleated cells in total...
February 23, 2017: Radiation Research
https://www.readbyqxmd.com/read/28230829/genetic-effects-in-children-exposed-in-prenatal-period-to-ionizing-radiation-after-the-chornobyl-nuclear-power-plant-accident
#13
Ye I Stepanova, V Yu Vdovenko, Zh A Misharina, V I Kolos, L P Mischenko
AIM: To study the genetic effects in children exposed to radiation in utero as a result of the Chornobyl nuclear power plant accident accounting the total radiation doses and equivalent radiation doses to the red bone marrow. MATERIALS AND METHODS: Incidence of minor developmental anomalies was studied in children exposed to radiation in utero (study group) and in the control group (1144 subjects surveyed in total). Cytogenetic tests using the method of differential G-banding of chromosomes were conducted in 60 children of both study and control groups (10-12-year-olds) and repeatedly in 39 adolescents (15-17-year-olds)...
December 2016: Experimental Oncology
https://www.readbyqxmd.com/read/28230828/chromosomal-mutagenesis-in-human-somatic-cells-30-year-cytogenetic-monitoring-after-chornobyl-accident
#14
M A Pilinska, G M Shemetun, O V Shemetun, S S Dybsky, O B Dybska, O O Talan, L R Pedan, D А Kurinnyi
In the lecture we have generalized and analyzed the data of cytogenetic laboratory of National Research Center for Radiation Medicine of the National Academy of Medical Sciences of Ukraine on 30-year selective cytogenetic monitoring among the priority contingents of different ages exposed to radiation after Chornobyl accident in Ukraine. It is highlighted that not only targeted but also untargeted radiation-induced cytogenetic effects should be explored, especially in delayed terms following radiation exposure...
December 2016: Experimental Oncology
https://www.readbyqxmd.com/read/28230827/astaxanthin-modifies-clastogenic-effects-of-ionizing-radiation-in-vitro-in-peripheral-blood-lymphocytes-of-the-persons-recovered-from-acute-radiation-sickness
#15
D А Kurinnyi, S R Rushkovsky, O B Dybska, G V Dubrovina, M А Pilinska
AIM: To assess radioprotective activity of astaxanthin toward radiation-induced in vitro cytogenetic effects in human peripheral blood lymphocytes (PBL). MATERIALS AND METHODS: PBL from the cleanup workers exposed to ionizing radiation at high doses in 1986 during accident on Chornobyl nuclear power plant and who were diagnosed with acute radiation sickness of the first and second degrees, were cultured in vitro. Astaxanthin was added into the culture medium at a final concentration of 20...
December 2016: Experimental Oncology
https://www.readbyqxmd.com/read/28230819/chornobyl-catastrophe-cytogenetic-effects-of-low-dose-ionizing-radiation-and-their-modification
#16
E A Domina
Among the long-term effects of the Chornobyl disaster the greatest concern of international medical and scientific community is given to the established fact of excess of the spontaneous level of cancer incidence in the exposed population. According to mo-dern concepts, the accumulation of chromosome aberrations, especially in radiosensitive cells, could be potentially oncogenic, and low doses of ionizing radiation could be promoters of the radiation-induced carcinogenesis. The results of our studies have shown that such substances as thymalin, inosine, ascorbic acid, caffeine could modify radiation-induced cytogenetic effects in peripheral blood lymphocytes of healthy individuals and exert protective or sensitizing action dependent on their concentrations, cell radiosensitivity, dose of irradiation, and relative biologic effectiveness of ionizing radiation...
December 2016: Experimental Oncology
https://www.readbyqxmd.com/read/28229253/the-biology-of-uveal-melanoma
#17
Adriana Amaro, Rosaria Gangemi, Francesca Piaggio, Giovanna Angelini, Gaia Barisione, Silvano Ferrini, Ulrich Pfeffer
Uveal melanoma (UM), a rare cancer of the eye, is distinct from cutaneous melanoma by its etiology, the mutation frequency and profile, and its clinical behavior including resistance to targeted therapy and immune checkpoint blockers. Primary disease is efficiently controlled by surgery or radiation therapy, but about half of UMs develop distant metastasis mostly to the liver. Survival of patients with metastasis is below 1 year and has not improved in decades. Recent years have brought a deep understanding of UM biology characterized by initiating mutations in the G proteins GNAQ and GNA11...
February 22, 2017: Cancer Metastasis Reviews
https://www.readbyqxmd.com/read/28224649/sex-chromosomal-abnormalities-associated-with-equine-infertility-validation-of-a-simple-molecular-screening-tool-in-the-purebred-spanish-horse
#18
G Anaya, A Molina, M Valera, M Moreno-Millán, P Azor, P Peral-García, S Demyda-Peyrás
Chromosomal abnormalities in the sex chromosome pair (ECAX and ECAY) are widely associated with reproductive problems in horses. However, a large proportion of these abnormalities remains undiagnosed due to the lack of an affordable diagnostic tool that allows for avoiding karyotyping tests. Hereby, we developed an STR (single-tandem-repeat)-based molecular method to determine the presence of the main sex chromosomal abnormalities in horses in a fast, cheap and reliable way. The frequency of five ECAX-linked (LEX026, LEX003, TKY38, TKY270 and UCDEQ502) and two ECAY-linked (EcaYH12 and SRY) markers was characterized in 261 Purebred Spanish Horses to determine the efficiency of the methodology developed to be used as a chromosomal diagnostic tool...
February 22, 2017: Animal Genetics
https://www.readbyqxmd.com/read/28224300/nilotinib-first-line-therapy-in-patients-with-philadelphia-chromosome-negative-bcr-abl-positive-chronic-myeloid-leukemia-in-chronic-phase-enest1st-sub-analysis
#19
Andreas Hochhaus, Franҫois-Xavier Mahon, Philipp le Coutre, Ljubomir Petrov, Jeroen J W M Janssen, Nicholas C P Cross, Delphine Rea, Fausto Castagnetti, Andrzej Hellmann, Gianantonio Rosti, Norbert Gattermann, Maria Liz Paciello Coronel, Maria Asuncion Echeveste Gutierrez, Valentin Garcia-Gutierrez, Beatrice Vincenzi, Luca Dezzani, Francis J Giles
PURPOSE: The ENEST1st sub-analysis presents data based on Philadelphia chromosome (Ph) status, i.e., Ph+ and Ph-/BCR-ABL1 + chronic myeloid leukemia. METHODS: Patients received nilotinib 300 mg twice daily, up to 24 months. RESULTS: At screening, 983 patients were identified as Ph+ and 30 patients as Ph-/BCR-ABL + based on cytogenetic and RT-PCR assessment; 76 patients had unknown karyotype (excluded from this sub-analysis). In the Ph-/BCR-ABL1 + subgroup, no additional chromosomal aberrations were reported...
February 21, 2017: Journal of Cancer Research and Clinical Oncology
https://www.readbyqxmd.com/read/28223278/impact-of-genetic-alterations-in-stem-cell-transplantation-for-myelodysplasia-and-secondary-acute-myeloid-leukemia
#20
Tetsuichi Yoshizato, Yasuhito Nannya, Yoshiko Atsuta, Yusuke Shiozawa, Yuka Iijima-Yamashita, Kenichi Yoshida, Yuichi Shiraishi, Hiromichi Suzuki, Yasunobu Nagata, Yusuke Sato, Nobuyuki Kakiuchi, Keitaro Matsuo, Makoto Onizuka, Keisuke Kataoka, Kenichi Chiba, Hiroko Tanaka, Hiroo Ueno, Masahiro M Nakagawa, Bartlomiej Przychodzen, Claudia Haferlach, Wolfgang Kern, Kosuke Aoki, Hidehiro Itonaga, Yoshinobu Kanda, Mikkael A Sekeres, Jaroslaw P Maciejewski, Torsten Haferlach, Yasushi Miyazaki, Keizo Horibe, Masashi Sanada, Satoru Miyano, Hideki Makishima, Seishi Ogawa
Genetic alterations, including mutations and copy number alterations, are central to the pathogenesis of myelodysplastic syndromes and related diseases (myelodysplasia), but their roles in allogeneic stem-cell transplantation have not fully been studied in a large cohort of patients. We enrolled 797 patients who had been diagnosed with myelodysplasia at initial presentation and received transplantation via the Japan Marrow Donor Program. Targeted-capture sequencing was performed to identify mutations in 69 genes, together with copy number alterations, whose effects on transplantation outcomes were investigated...
February 21, 2017: Blood
keyword
keyword
2029
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"