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https://www.readbyqxmd.com/read/28092784/inflammatory-myofibroblastic-tumor-involving-liver-gallbladder-pylorus-duodenum-a-rare-case-presentation
#1
Lakshmi Sinha, Arshad Hasan, Akhilesh Kumar Singh, Poonam Prasad Bhadani, Achyuta Nand Jha, Prashant Kumar Singh, Manoj Kumar
Inflammatory myofibroblastic tumors are rare benign tumors that can mimic malignancy of unknown aetiology. It has spectrum of myofibroblastic proliferation along with varying amount of inflammatory infiltrate. Recently, the concept of this lesion being reactive has been challenged based on the clinical demonstration of recurrences and metastasis and cytogenetic evidence of acquired clonal chromosomal abnormalities. We hereby report a case of inflammatory myofibroblastic tumor involving liver, gallbladder pylorus and 1st part of duodenum...
January 5, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28092102/micrornas-potential-candidates-for-diagnosis-and-treatment-of-colorectal-cancer
#2
REVIEW
Abdullah Moridikia, Hamed Mirzaei, Amirhossein Sahebkar, Jafar Salimian
Colorectal cancer (CRC) is known as the third common cancer worldwide and an important public health problem in different populations. Several genetics and environmental risk factors are involved in the development and progression of CRC including chromosomal abnormalities, epigenetic alterations, and unhealthy lifestyle. Identification of risk factors and biomarkers could lead to a better understanding of molecular pathways involved in CRC pathogenesis. MicroRNAs (miRNAs) are important regulatory molecules which could affect a variety of cellular and molecular targets in CRC...
January 16, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28090366/bosutinib-therapy-in-patients-with-chronic-myeloid-leukemia-practical-considerations-for-management-of-side-effects
#3
REVIEW
Patricia S Ault, John Rose PharmD, Lisa A Nodzon PhD, Elizabeth S Kaled
The past decade has witnessed great advances in the treatment of chronic myeloid leukemia (CML), brought about in large part by the development of BCR-ABL tyrosine kinase inhibitors (TKIs). Bosutinib joins the armamentarium of approved TKIs for the treatment of chronic phase (CP), accelerated phase (AP), and blast phase (BP) Philadelphia chromosome (Ph)-positive CML resistant to or intolerant of prior therapy. Bosutinib has an adverse-event (AE) profile distinct from that of other TKIs. Diarrhea is the predominant toxicity associated with bosutinib treatment; other commonly reported nonhematologic AEs include rash and liver enzyme elevations...
March 2016: Journal of the Advanced Practitioner in Oncology
https://www.readbyqxmd.com/read/28089441/prognostic-implications-of-monosomies-in-patients-with-multiple-myeloma
#4
Sang-Yong Shin, Hyeon-Seok Eom, Ji Yeon Sohn, Hyewon Lee, Boram Park, Jungnam Joo, Ja-Hyun Jang, Mi-Na Lee, Jung Kwon Kim, Sun-Young Kong
BACKGROUND: Cytogenetic analysis aides in risk stratification for patients with multiple myeloma (MM). Although several cytogenetic aberrations have been reported to be prognostic, less is known about the association between the presence of monosomies and prognosis. The present study evaluated the prevalence and prognostic implications of monosomies in patients with MM. MATERIALS AND METHODS: Karyotypes were determined using conventional cytogenetics and fluorescence in situ hybridization (FISH)...
December 26, 2016: Clinical Lymphoma, Myeloma & Leukemia
https://www.readbyqxmd.com/read/28087737/a-homozygous-mutation-in-trim36-causes-autosomal-recessive-anencephaly-in-an-indian-family
#5
Nivedita Singh, Vishwanath Kumble Bhat, Ankana Tiwari, Srinivas G Kodaganur, Sagar J Tontanahal, Astha Sarda, K V Malini, Arun Kumar
Anencephaly is characterized by the absence of brain tissues and cranium. During primary neurulation stage of the embryo, the rostral part of the neural pore fails to close, leading to anencephaly. Anencephaly shows a heterogeneous etiology, ranging from environmental to genetic causes. The autosomal recessive inheritance of anencephaly has been reported in several populations. In this study, we employed whole-exome sequencing and identified a homozygous missense mutation c.1522C>A (p.Pro508Thr) in the TRIM36 gene as the cause of autosomal recessive anencephaly (APH) in an Indian family...
January 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28087673/rdna-stability-is-supported-by-many-buffer-genes-introduction-to-the-yeast-rdna-stability-database
#6
Takehiko Kobayashi, Mariko Sasaki
The ribosomal RNA gene (rDNA) is the most abundant gene in yeast and other eukaryotic organisms. Due to its heavy transcription, repetitive structure and programmed replication fork pauses, the rDNA is one of the most unstable regions in the genome. Thus, the rDNA is the best region to study the mechanisms responsible for maintaining genome integrity. Recently, we screened a library of ∼4,800 budding yeast gene knockout strains to identify mutants defective in the maintenance of rDNA stability. The results of this screen are summarized in the Yeast rDNA Stability Database, in which the stability and copy number of rDNA in each mutant are presented...
January 12, 2017: FEMS Yeast Research
https://www.readbyqxmd.com/read/28087391/clonal-cytogenetic-abnormalities-are-predictor-in-developing-non-hodgkin-lymphomas
#7
Ying Wang, Yi Xiao, Xiangyu Meng, Heng Zhang, Qinlu Li, Fankai Meng, Lifang Huang, Chunrui Li, Jianfeng Zhou
Pathological analysis is the cornerstone for diagnosing malignant lymphoma. Status of cytogenetic abnormalities is frequently left unexamined if no evidence of malignancy is found in pathological analysis. In this study, we presented 3 cases in which clonal cytogenetic abnormalities were detected but morphological alterations of the same tissue did not support malignant non Hodgkin lymphoma at the first lymph node biopsy. Case 1 is a 55-year-old female with lymphadenopathy neoplastic process confirmed by flow cytometry and polymerase chain reaction (PCR)...
January 10, 2017: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/28079294/a-locus-on-chromosome-16-is-significantly-associated-with-increased-tendency-to-lose-pups-in-females-of-the-rr-sgn-inbred-mouse-strain
#8
Jun-Ichi Suto
Females of the inbred mouse strain RR/Sgn have an apparent tendency to lose pups during rearing. To identify genes underlying this abnormal maternal phenotype, we performed quantitative trait loci (QTL) mapping in 349 (C57BL/6 J × RR/Sgn) F1  × RR/Sgn backcross mice and identified one significant and one suggestive QTL on chromosomes 16 and 4, respectively. We assigned the gene symbol nurturing ability QTL 3 (Naq3) to the QTL on chromosome 16. Twenty of the 21 mothers who lost entire litters were homozygous for RR/Sgn allele at Naq3; i...
November 2, 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/28079110/left-ventricular-noncompaction-cardiomyopathy-cardiac-neuromuscular-and-genetic-factors
#9
REVIEW
Josef Finsterer, Claudia Stöllberger, Jeffrey A Towbin
Left ventricular hypertrabeculation (LVHT) or noncompaction is a myocardial abnormality of unknown aetiology, frequently associated with monogenic disorders, particularly neuromuscular disorders, or with chromosomal defects. LVHT is diagnosed usually by echocardiography by the presence of a bilayered myocardium consisting of a thick, spongy, noncompacted endocardial layer and a thin, compacted, epicardial layer. The pathogenesis of LVHT is unsolved, and the diagnostic criteria, prognosis, and optimal treatment of patients with LVHT are under debate...
January 12, 2017: Nature Reviews. Cardiology
https://www.readbyqxmd.com/read/28076990/outcomes-in-the-absence-of-the-ductus-venosus-diagnosed-in-the-first-trimester
#10
Hiroko Takita, Junichi Hasegawa, Tatsuya Arakaki, Shoko Hamada, Mayumi Tokunaka, Masamitsu Nakamura, Ryu Matsuoka, Akihiko Sekizawa
PURPOSE: To clarify the outcomes of the absence of the ductus venosus diagnosed in fetuses suspected to have a structural abnormality during a morphological assessment in the first trimester. METHODS: Infants in whom ultrasound fetal morphological assessments were attempted in the first trimester (11 to 13-6 weeks of gestation) and who were subsequently delivered between 2013 and 2015 at Showa University Hospital were enrolled. In cases in which the absence of the ductus venosus was diagnosed in the first trimester, the prognosis was assessed...
January 11, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28076398/identification-of-a-novel-mutation-in-brd4-that-causes-autosomal-dominant-syndromic-congenital-cataracts-associated-with-other-neuro-skeletal-anomalies
#11
Hyun-Seok Jin, Jeonhyun Kim, Woori Kwak, Hyeonsoo Jeong, Gyu-Bin Lim, Cha Gon Lee
Congenital cataracts can occur as a non-syndromic isolated ocular disease or as a part of genetic syndromes accompanied by a multi-systemic disease. Approximately 50% of all congenital cataract cases have a heterogeneous genetic basis. Here, we describe three generations of a family with an autosomal dominant inheritance pattern and common complex phenotypes, including bilateral congenital cataracts, short stature, macrocephaly, and minor skeletal anomalies. We did not find any chromosomal aberrations or gene copy number abnormalities using conventional genetic tests; accordingly, we conducted whole-exome sequencing (WES) to identify disease-causing genetic alterations in this family...
2017: PloS One
https://www.readbyqxmd.com/read/28074435/plk1-inhibition-leads-to-a-failure-of-mitotic-division-during-the-first-mitotic-division-in-pig-embryos
#12
Zixiao Zhang, Changchao Chen, Panpan Cui, Yaya Liao, Lingyun Yao, Yue Zhang, Rong Rui, Shiqiang Ju
PURPOSE: This study was conducted to examine the dynamic distribution of polo-like 1 kinase (Plk1) and the possible role it plays in first mitotic division during early porcine embryo development. METHODS: Indirect immunofluorescence and confocal microscopy imaging techniques combined with western blot analyses were used to study the dynamic expression and subcellular localization of Plk1 protein in pig parthenogenetic embryos. Finally, a selective Plk1 inhibitor, GSK461364, was used to evaluate the potential role of Plk1 during this special stage...
January 10, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28073824/a-drosophila-toolkit-for-defining-gene-function-in-spermatogenesis
#13
Nicole A Siddall, Gary R Hime
Expression profiling and genomic sequencing methods enable the accumulation of vast quantities of data that relate to expression of genes during the maturation of male germ cells from primordial germ cells to spermatozoa, and potential mutations that underlie male infertility. However, determination of gene function in specific aspects of spermatogenesis or linking abnormal gene function with infertility remain rate limiting, as even in an era of CRISPR analysis of gene function in mammalian models, this still requires considerable resources and time...
January 10, 2017: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/28072479/reference-values-for-sonographically-estimated-fetal-weight-in-twin-gestations-stratified-by-chorionicity-a-single-center-study
#14
Rinat Gabbay-Benziv, Sarah Crimmins, Stephen A Contag
OBJECTIVES: To determine reference values for sonography-based estimated fetal weight (EFW) in twin gestations in one single tertiary medical center in the United States. METHODS: A retrospective longitudinal analysis of EFW evaluations of fetuses of twin gestations between November 2006 and June 2016. Fetuses with major congenital anomalies or chromosomal abnormalities were excluded. Estimated fetal weight was calculated using the Hadlock 1985 formula. Linear mixed models were used to allow for multiple but inconsistent observations among individuals, and to account for intertwin differences as well as for gender...
January 10, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28072476/aberrant-right-subclavian-artery-correlation-between-fetal-and-neonatal-abnormalities-and-abnormal-genetic-screening-or-testing
#15
Angela C Ranzini, Francine Hyman, Emily Jamaer, Tim van Mieghem
OBJECTIVES: To determine whether fetuses with an isolated aberrant course of the right subclavian artery (ARSA) have increased risk for chromosomal abnormalities, including trisomy 21 or 22q11 deletion. METHODS: We performed a retrospective chart review of all fetuses with antenatally diagnosed ARSA. Data were collected from fetal anatomic surveys, fetal echocardiograms, noninvasive trisomy 21 screening programs, invasive genetic studies, and neonatal records. RESULTS: Seventy-nine fetuses with ARSA were identified at 20...
January 10, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28070921/brm-smarca2-negative-clear-cell-renal-cell-carcinoma-is-associated-with-a-high-percentage-of-brm-somatic-mutations-deletions-and-promoter-methylation
#16
Qiu-Yuan Xia, Xue-Mei Zhan, Xiang-Shan Fan, Sheng-Bing Ye, Shan-Shan Shi, Rui Li, Xue Wei, Xuan Wang, Heng-Hui Ma, Zhen-Feng Lu, Xiao-Jun Zhou, Qiu Rao
AIMS: The aim of this study was to investigate potential molecular mechanisms associated with loss of BRM expression in poorly differentiated clear cell renal cell carcinoma (ccRCC). METHODS AND RESULTS: Nineteen previously selected BRM-negative RCC tissues were examined by DNA sequencing, fluorescence in-situ hybridization (FISH) and methylation-specific polymerase chain reaction (PCR) of the BRM gene. BRM mutation was identified in 78.9% (15 of 19) cases, chromosome 9 monosomy or BRM deletion in 43...
November 7, 2016: Histopathology
https://www.readbyqxmd.com/read/28069866/trim-proteins-and-diseases
#17
REVIEW
Masashi Watanabe, Shigetsugu Hatakeyama
Ubiquitination is one of the posttranslational modifications that regulates a number of intracellular events including signal transduction, protein quality control, transcription, cell cycle, apoptosis and development. The ubiquitin system functions as a garbage machine to degrade target proteins and as a regulator for several signalling pathways. Biochemical reaction of ubiquitination requires several enzymes including E1, E2 and E3, and E3 ubiquitin ligases play roles as receptors for recognizing target proteins...
January 7, 2017: Journal of Biochemistry
https://www.readbyqxmd.com/read/28069184/sperm-aneuploidy-after-testicular-cancer-treatment-data-from-a-prospective-multicenter-study-performed-within-the-french-centre-d-%C3%A3-tude-et-de-conservation-des-oeufs-et-du-sperme-network
#18
Nathalie Rives, Marie Walschaerts, Véronique Setif, Sylvianne Hennebicq, Jacqueline Saias, Florence Brugnon, Jacques Auger, Isabelle Berthaut, Ethel Szerman, Myriam Daudin, Louis Bujan
OBJECTIVE: To study sperm aneuploidy in a population of testicular cancer (TC) patients treated with the use of either bleomycin-etoposide-cisplatin (BEP) chemotherapy or radiotherapy. DESIGN: Multicenter prospective longitudinal study of TC patients analyzed before treatment and after 3, 6, 12, and 24 months (T3-T24). PATIENT(S): Fifty-four TC patients and a control group of 10 fertile sperm donors. SETTING: University hospital laboratories...
January 6, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28064333/neurological-expression-of-an-inherited-translocation-of-chromosomal-1-and-7
#19
Nabil A AlMajhad, Amal M AlHashem, Inesse A Bouhjar, Brahim M Tabarki
An unbalanced translocation of chromosome 1 and 7 (t[1;7]) associated with neurological phenotype and brain malformation has rarely been reported. This clinical report describes 3 siblings with brain malformations and a 13.5 Mb duplication of 1q42.3q44, and a 7.6 Mb duplication of 7q36.1q36.3 detected by array comparative genomic hybridization. This unbalanced t(1;7) was found to be inherited from a balanced translocation from the mother. All the patients presented with hypotonia, microcephaly, developmental delay, seizures, abnormal corpus callosum and abnormal cerebellum...
January 2017: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
https://www.readbyqxmd.com/read/28063379/oxidative-stress-mitochondrial-abnormalities-and-antioxidant-defense-in-ataxia-telangiectasia-bloom-syndrome-and-nijmegen-breakage-syndrome
#20
REVIEW
Mateusz Maciejczyk, Bozena Mikoluc, Barbara Pietrucha, Edyta Heropolitanska-Pliszka, Malgorzata Pac, Radosław Motkowski, Halina Car
Rare pleiotropic genetic disorders, Ataxia-telangiectasia (A-T), Bloom syndrome (BS) and Nijmegen breakage syndrome (NBS) are characterised by immunodeficiency, extreme radiosensitivity, higher cancer susceptibility, premature aging, neurodegeneration and insulin resistance. Some of these functional abnormalities can be explained by aberrant DNA damage response and chromosomal instability. It has been suggested that one possible common denominator of these conditions could be chronic oxidative stress caused by endogenous ROS overproduction and impairment of mitochondrial homeostasis...
December 28, 2016: Redox Biology
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