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https://www.readbyqxmd.com/read/28549201/cytogenetic-aspects-of-a-canine-breast-carcinosarcoma-a-case-report
#1
C S D Morais, P R A M Affonso, J A Bitencourt, A A Wenceslau
This study searched a rare and aggressive type of cancer in dogs and humans, the breast carcinosarcoma. Both clinical and pathological traits of mammary carcinosarcomas in dogs are similar to humans, such as infrequent occurrence, fast tumor growth, and unfavorable prognosis when compared to carcinomas. Other possible alterations include chromosomal abnormalities that can be useful for the identification of tumoral cells and diagnosis. The aim of this study was to compare the chromosomal features of peripheral lymphocytes and tumor cells in a mammary carcinosarcoma of a 14-year-old female Poodle...
May 25, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28548470/whole-exome-sequencing-of-etv6-runx1-in-four-childhood-acute-lymphoblastic-leukaemia-cases
#2
Zubaidah Zakaria, Norodiyah Othman, Azli Ismail, Nor Rizan Kamaluddin, Ezalia Esa, Eni Juraida Abdul Rahman, Yuslina Mat Yusoff, Fazlin Mohd Fauzi, Ten Sew Keoh
Background: ETV6/RUNX1 gene fusion is the most frequently seen chromosomal abnormality in childhood acute lymphobastic leukamia (ALL). However, additional genetic changes are known to be required for the development of this type of leukaemia. Therefore, we here aimed to assess the somatic mutational profile of four ALL cases carrying the ETV6/RUNX1 fusion gene using whole-exome sequencing. Methods: DNA was isolated from bone marrow samples using a QIAmp DNA Blood Mini kit and subsequently sequenced using the Illumina MiSeq system...
April 1, 2017: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/28544142/discordant-phenotypes-in-monozygotic-twins-with-16p11-2-microdeletions-including-the-sh2b1-gene
#3
Lin Li, Linhuan Huang, Shaobin Lin, Yanmin Luo, Qun Fang
A 200∼240 kb SH2B1-containing deletion region on 16p11.2 is associated with early-onset obesity and developmental delay. Here, we describe monozygotic twin brothers with discordant clinical presentations. Intrauterine fetal growth restriction was present in both twins. Additionally, twin A exhibited coarctation of aorta, left ventricular noncompaction, atrial septal defect, pericardial effusion, left hydronephrosis, and moderate developmental delay, whereas twin B exhibited single umbilical artery. Chromosome microarray analysis was performed on both twins and their parents...
May 24, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28543636/loss-of-retinoblastoma-in-pleomorphic-fibroma-an-immunohistochemical-and-genomic-analysis
#4
Brian Hinds, Alfredo Agulló, Philip E LeBoit, Timothy H McCalmont, Jeffrey P North
BACKGROUND: Pleomorphic fibroma is a curious neoplasm that exhibits striking cytologic atypia, yet behaves in benign fashion. The cytologic features including single cells with pleomorphic nuclei and scattered giant cells resemble the neoplastic cells of pleomorphic lipoma, a tumor with known retinoblastoma (Rb) loss. METHODS: We assessed the demographic and histopathologic features of a cohort of 26 pleomorphic fibromas, including assessment with immunostaining for Rb, p16, and Ki-67...
May 23, 2017: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/28541279/do-the-data-really-support-ordering-fragile-x-testing-as-a-first-tier-test-without-clinical-features
#5
Veronique Weinstein, Pranoot Tanpaiboon, Kimberly A Chapman, Nicholas Ah Mew, Sean Hofherr
PurposeCurrent guidelines recommend first-tier chromosome microarray analysis (CMA) and fragile X syndrome (FX) testing for males with isolated intellectual disabilities/learning delay (ID/LD) and autism spectrum disorders (ASDs).MethodsMales in our clinic with ID/LD or ASD (310) were analyzed for positive results from CMA and/or FX testing.ResultsCMA detected abnormalities in 29% of males with ID/LD and only 9% of males with ASD (including variants of uncertain significance and absence of heterozygosity). When males with ID/LD were tested for FX, the detection rate was 2...
May 25, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28540575/the-yield-and-complications-of-amniocentesis-performed-after-24-weeks-of-gestation
#6
Keren Tzadikevitch Geffen, Ohad Ben-Zvi, Omer Weitzner, Amir Peleg, Tal Biron-Shental, Rivka Sukenik-Halevy
PURPOSE: This study assessed the use and complications of late amniocentesis (AC) and analyzed factors that affect complication rate. METHODS: A retrospective analysis of 167 genetic AC performed after 24 weeks during a 10-year period in two medical centers was conducted. Data regarding the indications for AC, genetic work-up, and pregnancy outcomes were retrieved from patient medical records and telephone-based questionnaires. RESULTS: Mean gestational age (GA) at the time of AC was 31...
May 24, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28539737/preclinical-toxicological-evaluation-of-idm01-the-botanical-composition-of-4-hydroxyisoleucine-and-trigonelline-based-standardized-fenugreek-seed-extract
#7
Pallavi O Deshpande, Vishwaraman Mohan, Prasad Arvind Thakurdesai
OBJECTIVE: To evaluate acute oral toxicity (AOT), subchronic (90-day repeated dose) toxicity, mutagenicity, and genotoxicity potential of IDM01, the botanical composition of 4-hydroxyisoleucine- and trigonelline-based standardized fenugreek (Trigonella foenum-graecum L) seed extract in laboratory rats. MATERIALS AND METHODS: The AOT and subchronic (90-day repeated dose) toxicity were evaluated using Sprague-Dawley rats as per the Organisation for Economic Co-operation and Development (OECD) guidelines No...
April 2017: Pharmacognosy Research
https://www.readbyqxmd.com/read/28539298/-fine-needle-aspiration-cell-pathology-for-diagnosis-of-intrathoracic-extramedullary-hematopoiesis-presenting-as-a-posterior-mediastinal-tumor-a-case-report
#8
Jie Zhou, Tong Zhao, Min Deng
To study the feasibility of in a A patient with extramedullary hematopoiesis presenting as a posterior mediastinal tumor underwent fine-needle aspiration for cell pathology diagnosis. The primary locus of a posterior mediastinal extramedullary hematopoiesis was examined with Papanicolaou staining and HE staining, and the expressions of cytokeratin, epithelial membrane antigen (EMA), terminal deoxynucleotidyl transferase, CD3, CD20, anaplastic lymphoma kinase, CD34, CD235a, myeloperoxidase, CD61, P53, CD30, S-100, CD1a, and Ki-67 with immunohistochemistry...
May 20, 2017: Nan Fang Yi Ke da Xue Xue Bao, Journal of Southern Medical University
https://www.readbyqxmd.com/read/28538689/reticulate-evolution-of-the-rock-lizards-meiotic-chromosome-dynamics-and-spermatogenesis-in-diploid-and-triploid-males-of-the-genus-darevskia
#9
Victor Spangenberg, Marine Arakelyan, Eduard Galoyan, Sergey Matveevsky, Ruzanna Petrosyan, Yuri Bogdanov, Felix Danielyan, Oxana Kolomiets
Knowing whether triploid hybrids resulting from natural hybridization of parthenogenetic and bisexual species are fertile is crucial for understanding the mechanisms of reticulate evolution in rock lizards. Here, using males of the bisexual diploid rock lizard species Darevskia raddei nairensis and Darevskia valentini and a triploid hybrid male Darevskia unisexualis × Darevskia valentini, we performed karyotyping and comparative immunocytochemistry of chromosome synapsis and investigated the distribution of RAD51 and MLH1 foci in spread spermatocyte nuclei in meiotic prophase I...
May 24, 2017: Genes
https://www.readbyqxmd.com/read/28537910/techniques-for-detecting-chromosomal-aberrations-in-myelodysplastic-syndromes
#10
REVIEW
Qibin Song, Min Peng, Yuxin Chu, Shiang Huang
Myelodysplastic syndromes (MDS) are a group of heterogeneous hematologic diseases. Chromosomal aberrations are important for the initiation, development, and progression of MDS. Detection of chromosomal abnormalities in MDS is important for categorization, risk stratification, therapeutic selection, and prognosis evaluation of the disease. Recent progress of multiple techniques has brought powerful molecular cytogenetic information to reveal copy number variation, uniparental disomy, and complex chromosomal aberrations in MDS...
May 9, 2017: Oncotarget
https://www.readbyqxmd.com/read/28537237/-comparative-results-of-preimplantation-genetic-screening-by-array-comparative-genomic-hybridization-and-new-generation-sequencing
#11
N V Aleksandrova, E S Shubina, A N Ekimov, T A Kodyleva, I S Mukosey, N P Makarova, E V Kulakova, L A Levkov, I Yu Barkov, D Yu Trofimov, G T Sukhikh
Aneuploidies as quantitative chromosome abnormalities are a main cause of failed development of morphologically normal embryos, implantation failures, and early reproductive losses. Preimplantation genetic screening (PGS) allows a preselection of embryos with a normal karyotype, thus increasing the implantation rate and reducing the frequency of early pregnancy loss after IVF. Modern PGS technologies are based on a genome-wide analysis of the embryo. The first pilot study in Russia was performed to assess the possibility of using semiconductor new-generation sequencing (NGS) as a PGS method...
March 2017: Molekuliarnaia Biologiia
https://www.readbyqxmd.com/read/28536874/-genetic-findings-in-autism-spectrum-disorders
#12
REVIEW
C M Freitag
Autism spectrum disorders (ASD) are pervasive developmental disorders comprising problems in social interaction, communication, and stereotyped behavior and interests. They show a prevalence of around 0.8% in children, adolescents, and adults, and a skewed sex distribution (about 4:1 = male:female). ASD are predominantly genetically determined disorders. Heritability estimates from twin studies range between 64 and 91%. Recurrence risk in siblings is 20-fold elevated. De novo and inherited monogenetic disorders, mutations, sex chromosomal abnormalities, cytogenetic and imprinting disorders as well as common variants are associated with ASD...
May 23, 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/28536495/serum-ldh-level-may-predict-outcome-of-chronic-lymphocytic-leukemia-patients-with-a-17p-deletion-a-retrospective-analysis-of-prognostic-factors-in-china
#13
Heng Li, Wenjie Xiong, Huimin Liu, Shuhua Yi, Zhen Yu, Wei Liu, Rui Lyu, Tingyu Wang, Dehui Zou, Zengjun Li, Lugui Qiu
OBJECTIVE: This study aims to evaluate the natural history of patients with chronic lymphocytic leukemia (CLL) and a 17p deletion (17p-) and identify the predictive factors within this subgroup. METHODS: The sample of patients with CLL were analyzed by fluorescencein situ hybridization for deletions in chromosome bands 11q22, 13q14 and 17p13; trisomy of bands 12q13; and translocation involving band 14q32. The data from 456 patients with or without a 17p- were retrospectively collected and analyzed...
April 2017: Chinese Journal of Cancer Research, Chung-kuo Yen Cheng Yen Chiu
https://www.readbyqxmd.com/read/28533625/beneficial-effect-of-interventional-exercise-on-autistic-fragile-x-syndrome
#14
REVIEW
Seunghoon Lee, Jinyoung Won, Sookyoung Park, Sang-Rae Lee, Kyu-Tae Chang, Joo-Heon Kim, Yonggeun Hong
[Purpose] The purpose of the present review is to discuss recent published articles in the understanding of efficacy of interventional exercise on autistic Fragile X syndrome (FXS) with special emphasis on its significance in clinical application in patients. [Methods] This review article was identified scientifically and/or clinically relevant articles from PubMed that directly/indirectly met the inclusion criteria. [Results] Mutation of fragile X mental retardation 1 (fmr1) gene on the X chromosome is related with loss of fragile X mental retardation protein (FMRP) that affecting physiological and behavioral abnormalities...
April 2017: Journal of Physical Therapy Science
https://www.readbyqxmd.com/read/28532528/hepatic-calcifications-in-fetal-population-studied-by-autopsies-in-bogota-colombia
#15
M Olaya-C, S Aldana-M, M Maya-G, F Gil
Fetal hepatic calcifications can be caused by infections, chromosomal disorders, thrombotic events, ischemic hepatic necrosis and subcapsular hematomas among others events. Its features and clinical significance are still not well known. We performed an observational study to describe fetal hepatic calcifications and its association with main clinical and histopathological findings from the fetal autopsy database, between 2007 and 2014. Raw odds ratio analysis was performed. We reviewed 591 fetal autopsies: 14 cases with hepatic calcifications, 102 fetuses with chromosomal disorders; 13 with diagnosis of TORSCH (toxoplasma, rubella, syphilis, cytomegalovirus, herpes virus 1 and 2, and others) and 207 with any abnormality in the umbilical cord (UC)...
May 23, 2017: Journal of Developmental Origins of Health and Disease
https://www.readbyqxmd.com/read/28531187/multi-scale-computational-study-of-the-mechanical-regulation-of-cell-mitotic-rounding-in-epithelia
#16
Ali Nematbakhsh, Wenzhao Sun, Pavel A Brodskiy, Aboutaleb Amiri, Cody Narciso, Zhiliang Xu, Jeremiah J Zartman, Mark Alber
Mitotic rounding during cell division is critical for preventing daughter cells from inheriting an abnormal number of chromosomes, a condition that occurs frequently in cancer cells. Cells must significantly expand their apical area and transition from a polygonal to circular apical shape to achieve robust mitotic rounding in epithelial tissues, which is where most cancers initiate. However, how cells mechanically regulate robust mitotic rounding within packed tissues is unknown. Here, we analyze mitotic rounding using a newly developed multi-scale subcellular element computational model that is calibrated using experimental data...
May 22, 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/28530678/the-complex-genetics-of-hypoplastic-left-heart-syndrome
#17
Xiaoqin Liu, Hisato Yagi, Shazina Saeed, Abha S Bais, George C Gabriel, Zhaohan Chen, Kevin A Peterson, You Li, Molly C Schwartz, William T Reynolds, Manush Saydmohammed, Brian Gibbs, Yijen Wu, William Devine, Bishwanath Chatterjee, Nikolai T Klena, Dennis Kostka, Karen L de Mesy Bentley, Madhavi K Ganapathiraju, Phillip Dexheimer, Linda Leatherbury, Omar Khalifa, Anchit Bhagat, Maliha Zahid, William Pu, Simon Watkins, Paul Grossfeld, Stephen A Murray, George A Porter, Michael Tsang, Lisa J Martin, D Woodrow Benson, Bruce J Aronow, Cecilia W Lo
Congenital heart disease (CHD) affects up to 1% of live births. Although a genetic etiology is indicated by an increased recurrence risk, sporadic occurrence suggests that CHD genetics is complex. Here, we show that hypoplastic left heart syndrome (HLHS), a severe CHD, is multigenic and genetically heterogeneous. Using mouse forward genetics, we report what is, to our knowledge, the first isolation of HLHS mutant mice and identification of genes causing HLHS. Mutations from seven HLHS mouse lines showed multigenic enrichment in ten human chromosome regions linked to HLHS...
May 22, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28527972/genetic-and-epigenetic-alterations-in-meningiomas
#18
REVIEW
Vasiliki Galani, Evangeli Lampri, Anna Varouktsi, George Alexiou, Antigoni Mitselou, Athanasios P Kyritsis
Meningiomas originate from the arachnoid layer of the meninges and divided histologically into three grades: benign (grade I), atypical (grade II), and malignant meningiomas (grade III). Genetic alterations in grade I meningiomas include frequent deletions of chromosomal locus 22q12 and NF2 gene mutations and uncommon somatic SMARCB1 and SMARCE1gene mutations; In grade II meningiomas, chromosomal losses occur on 1p, 22q, 14q, 18q, 10, and 6q, and gains on 20q, 12q, 15q, 1q, 9q, and 17q; In grade III meningiomas, losses have been recognized on 6q, 10, and 14q and alterations of PTEN, CDKN2A and CDKN2B genes...
May 3, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28523762/a-retrospective-study-of-cytogenetic-results-from-amniotic-fluid-in-5328-fetuses-with-abnormal-obstetric-sonographic-findings
#19
Shuo Zhang, Caixia Lei, Junping Wu, Haiyan Sun, Yuezhou Yang, Yueping Zhang, Xiaoxi Sun
OBJECTIVES: The purpose of this study was to evaluate the diagnostic utility of karyotype analysis of amniotic fluid for fetuses with abnormal sonographic findings and to determine the detection rates of abnormal karyotypes. METHODS: We conducted a retrospective study of 5328 fetuses with abnormal sonographic findings in the first or second trimester enrolled from October 1998 and September 2015. Cytogenetic results from amniotic fluid were obtained in all of these pregnancies...
May 19, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28523429/kir-lilrb-and-their-ligands-genes-as-potential-biomarkers-in-recurrent-implantation-failure
#20
REVIEW
Izabela Nowak, Karolina Wilczyńska, Jacek R Wilczyński, Andrzej Malinowski, Paweł Radwan, Michał Radwan, Piotr Kuśnierczyk
Reproductive failure in humans is a very important social and economic problem, because nowadays women decide to conceive later in life and delay motherhood. Unfortunately, with increasing age they have less chance for natural fertilization and maintenance of pregnancy. Many of them need assisted reproductive technology. Approximately 10% of women after in vitro fertilization-embryo transfers experience recurrent implantation failure (RIF). Multiple factors may contribute to RIF, including oocyte and sperm quality, parental chromosomal anomalies, genetic or metabolic abnormalities of the embryo, poor uterine receptivity, immunological disturbances in the implantation site, and some gynecologic pathologies such as endometriosis, uterine fibroids, hydrosalpinx and endometrial polyps...
May 18, 2017: Archivum Immunologiae et Therapiae Experimentalis
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