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https://www.readbyqxmd.com/read/27914067/5q-syndrome-like-features-as-the-first-manifestation-of-myelodysplastic-syndrome-in-a-patient-with-an-unbalanced-whole-arm-translocation-der-5-19-p10-q10
#1
Hiroshi Ureshino, Haruna Kizuka, Kana Kusaba, Haruhiko Sano, Atsujiro Nishioka, Takero Shindo, Yasushi Kubota, Toshihiko Ando, Kensuke Kojima, Shinya Kimura
Derivative (5;19)(p10;q10) [der(5;19)(p10;q10)] is a rare chromosomal abnormality in myelodysplastic syndrome (MDS), and is genetically similar to deletion 5q [del(5q)]. However, MDS with der(5;19)(p10;q10) and 5q- syndrome are generally characterized as distinct subtypes. Here, we report a case of a patient with 5q- syndrome-like features as the first manifestation of MDS with der(5; 19)(p10;q10). A 59-year-old woman was admitted to our hospital for anemia without leukopenia and thrombocytopenia. She had received chemotherapy comprising carboplatin and docetaxel for endometrial cancer eight years before...
December 2, 2016: International Journal of Hematology
https://www.readbyqxmd.com/read/27913912/genetic-counselor-practices-involving-pediatric-patients-with-fap-an-investigation-of-their-self-reported-strategies-for-genetic-testing-and-hepatoblastoma-screening
#2
Caitlin E Lawson, Thomas M Attard, Hongying Dai, Seth Septer
Familial adenomatous polyposis (FAP) is a cancer predisposition syndrome that causes early-onset polyposis and is associated with an increased risk for hepatoblastoma. There is currently a lack of consensus on when to order APC (adenomatous polyposis coli) gene testing or implement surveillance for hepatoblastoma. An online questionnaire was completed by 62 genetic counselors to capture their current practices regarding these questions. Extracolonic findings associated with FAP that were most likely to prompt APC testing in an otherwise asymptomatic 10 year-old child with a negative family history were multiple desmoid tumors, congenital hypertrophy of the retinal pigment epithelium (CHRPE), jaw osteomas, and hepatoblastoma...
December 3, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27913904/association-between-brain-structural-anomalies-electroencephalogram-and-history-of-seizures-in-mucopolysaccharidosis-type-ii-hunter-syndrome
#3
Ramón Ernesto Jiménez-Arredondo, Aniel Jessica Leticia Brambila-Tapia, Francisco Miguel Mercado-Silva, Martha Ortiz-Aranda, Verónica Benites-Godinez, Graciela Olmos-García-de-Alba, Luis Eduardo Figuera
Mucopolysaccharidosis type II or Hunter syndrome (MPS II) is a genetic disease that can course with intellectual impairment and central nervous system (CNS) alterations. To date, no report has documented electroencephalogram (EEG) measures associated with CNS alterations, detected by imaging studies, and the history of seizures in patients with MPS II. Therefore, we decided to search this association. We included 9 patients with MPS II and performed imaging studies of the brain to detect the presence of cortico-subcortical atrophy, enlarged subarachnoid space and supratentorial ventricular size...
December 2, 2016: Neurological Sciences
https://www.readbyqxmd.com/read/27913699/risk-and-association-of-hla-with-oxcarbazepine-induced-cutaneous-adverse-reactions-in-asians
#4
Chun-Bing Chen, Yi-Hsin Hsiao, Tony Wu, Mo-Song Hsih, Wichittra Tassaneeyakul, Teekayu P Jorns, Chonlaphat Sukasem, Chien-Ning Hsu, Shih-Chi Su, Wan-Chun Chang, Rosaline Chung-Yee Hui, Chia-Yu Chu, Yi-Ju Chen, Ching-Ying Wu, Chao-Kai Hsu, Tsu-Man Chiu, Pei-Lun Sun, Hua-En Lee, Chin-Yi Yang, Pei-Han Kao, Chih-Hsun Yang, Hsin-Chun Ho, Jing-Yi Lin, Ya-Ching Chang, Ming-Jing Chen, Chun-Wei Lu, Chau Yee Ng, Kang-Ling Kuo, Chien-Yio Lin, Ching-Sheng Yang, Ding-Ping Chen, Pi-Yueh Chang, Tsu-Lan Wu, Yu-Jr Lin, Yi-Ching Weng, Tseng-Tong Kuo, Shuen-Iu Hung, Wen-Hung Chung
OBJECTIVE: To investigate the risk and genetic association of oxcarbazepine-induced cutaneous adverse reactions (OXC-cADRs), including Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN), in Asian populations (Chinese and Thai). METHODS: We prospectively enrolled patients with OXC-cADRs in Taiwan and Thailand from 2006 to 2014, and analyzed the clinical course, latent period, drug dosage, organ involvement, complications, and mortality. We also investigated the carrier rate of HLA-B*15:02 and HLA-A*31:01 of patients with OXC-cADRs and compared to OXC-tolerant controls...
December 2, 2016: Neurology
https://www.readbyqxmd.com/read/27913610/whole-exome-sequencing-of-thymic-neuroendocrine-tumor-with-ectopic-acth-syndrome
#5
Yanli Li, Ying Peng, Xiuli Jiang, Yulong Cheng, Weiwei Zhou, Tingwei Su, Jing Xie, Xu Zhong, Dalong Song, Luming Wu, Liwen Fan, Min Li, Jie Hong, Weiqing Wang, Guang Ning, Yanan Cao
OBJECTIVE: Thymic neuroendocrine tumor is the second-most prevalent cause of ectopic adrenocorticotropic hormone (ACTH) syndrome (EAS), which is a rare disease characterized by ectopic ACTH oversecretion from nonpituitary tumors. However, the genetic abnormalities of thymic neuroendocrine tumors with EAS remain largely unknown. We aim to elucidate the genetic abnormalities and identify the somatic mutations of potential tumor-related genes of thymic neuroendocrine tumors with EAS by whole exome sequencing...
February 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27913534/myelodysplastic-and-myeloproliferative-disorders-of-childhood
#6
Henrik Hasle
Myelodysplastic syndrome (MDS) and myeloproliferative disorders are rare in children; they are divided into low-grade MDS (refractory cytopenia of childhood [RCC]), advanced MDS (refractory anemia with excess blasts in transformation), and juvenile myelomonocytic leukemia (JMML), each with different characteristics and management strategies. Underlying genetic predisposition is recognized in an increasing number of patients. Germ line GATA2 mutation is found in 70% of adolescents with MDS and monosomy 7. It is challenging to distinguish RCC from aplastic anemia, inherited bone marrow failure, and reactive conditions...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913519/transplantation-for-myelodysplastic-syndromes-who-when-and-which-conditioning-regimens
#7
Wael Saber, Mary M Horowitz
Allogeneic hematopoietic stem cell transplantation (HCT) is the only curative therapy for myelodysplastic syndrome (MDS). Broad application is hindered by high risks of transplant-related morbidity and mortality, especially in the older age range represented by the MDS population. However, recent advances in strategies to minimize regimen-related toxicity make HCT a viable option for many more patients. Appropriate selection of patients involves consideration of patient factors, including use of geriatric assessment tools and comorbidity scales, that predict risks of regimen-related toxicity as well as disease factors, including genetic markers, which predict survival with both non-HCT and HCT therapy...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913496/discussing-and-managing-hematologic-germ-line-variants
#8
Wendy Kohlmann, Joshua D Schiffman
With the introduction of genomic technologies, more hereditary cancer syndromes with hematologic malignancies are being described. Up to 10% of hematologic malignancies in children and adults may be the result of an underlying inherited genetic risk. Managing these patients with hereditary hematologic malignancies, including familial leukemia, remains a clinical challenge because there is little information about these relatively rare disorders. This article covers some of the issues related to the diagnosis and interpretation of variants associated with hereditary hematologic malignancies, including the importance of an accurate family history in interpreting genetic variants associated with disease...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913495/germ-line-mutations-associated-with-leukemias
#9
Christopher C Porter
Several genetic syndromes have long been associated with a predisposition to the development of leukemia, including bone marrow failure syndromes, Down syndrome, and Li Fraumeni syndrome. Recent work has better defined the leukemia risk and outcomes in these syndromes. Also, in the last several years, a number of other germ line mutations have been discovered to define new leukemia predisposition syndromes, including ANKRD26, GATA2, PAX5, ETV6, and DDX41 In addition, data suggest that a substantial proportion of patients with therapy related leukemias harbor germ line mutations in DNA damage response genes such as BRCA1/2 and TP53 Recognition of clinical associations, acquisition of a thorough family history, and high index-of-suspicion are critical in the diagnosis of these leukemia predisposition syndromes...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913494/introduction-to-cancer-genetic-susceptibility-syndromes
#10
Rose B McGee, Kim E Nichols
The last 30 years have witnessed tremendous advances in our understanding of the cancer genetic susceptibility syndromes, including those that predispose to hematopoietic malignancies. The identification and characterization of families affected by these syndromes is enhancing our knowledge of the oncologic and nononcologic manifestations associated with predisposing germ line mutations and providing insights into the underlying disease mechanisms. Here, we provide an overview of the cancer genetic susceptibility syndromes, focusing on aspects relevant to the evaluation of patients with leukemia and lymphoma...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913483/atypical-hemolytic-uremic-syndrome
#11
Vahid Afshar-Kharghan
Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy (TMA) that affects multiple organs and the kidneys in particular. aHUS can be sporadic or familial and is most commonly caused by dysregulation of the alternative complement pathway. The initial attack of aHUS can occur at any age, and is associated with a high rate of progression to end stage renal disease. Many aHUS patients relapse in the native or transplanted kidneys, and require close monitoring and long-term management. Availability of anticomplement therapy has revolutionized the management of aHUS, and can change the natural course of aHUS by inducing hematologic remission, improving or stabilizing kidney functions, and preventing graft failure...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913465/aplastic-anemia-and-clonal-evolution-germ-line-and-somatic-genetics
#12
Akiko Shimamura
Clonal progression to myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) remains a dreaded complication for a subset of patients with bone marrow failure (BMF). Recognizing risk factors for the development of MDS or AML would inform individualized treatment decisions and identify patients who may benefit from early or upfront hematopoietic stem cell transplantation. Now that next-generation DNA sequencing is available in the clinical laboratory, research has focused on the implications of germ line and somatic mutations for diagnosing and monitoring patients with BMF...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913464/new-challenges-in-evaluating-anemia-in-older-persons-in-the-era-of-molecular-testing
#13
David P Steensma
Anemia is common in older persons, and often remains unexplained despite a thorough clinical history, physical examination, and focused laboratory testing, including marrow aspiration, biopsy, and karyotyping. The advent of molecular genetic testing panels in hematology clinical practice has complicated the evaluation of older patients with unexplained anemia. While the presence of a somatic mutation provides evidence of clonal hematopoiesis and may support a diagnosis of a hematologic neoplasm such as one of the myelodysplastic syndromes (MDS), with rare exceptions, individual mutations are not strongly associated with one specific diagnosis, nor are they by themselves diagnostic of neoplasia...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913276/association-of-genetic-polymorphisms-of-angiopoietin-like-4-with-severity-of-posttransplant-proteinuria-in-kidney-allograft-recipients
#14
Youngil Chang, Tariq Shah, Jaewook Yang, David I Min
BACKGROUND: Proteinuria is a hallmark of glomerular injury, and persistent proteinuria is associated with graft failure in kidney transplant patients. Recently, it is known that the level of circulating angiopoietin-like 4 (ANGPTL4) is elevated in the patients with human nephrotic syndrome, in which ANGPTL4 is responsible for relieving proteinuria. PURPOSE: The purpose of this study is to determine effects of clinical factors and genetic polymorphism of ANGPTL4 on proteinuria after kidney transplantation...
November 29, 2016: Transplant Immunology
https://www.readbyqxmd.com/read/27912058/impaired-amino-acid-transport-at-the-blood-brain-barrier-is-a-cause-of-autism-spectrum-disorder
#15
Dora C Tărlungeanu, Elena Deliu, Christoph P Dotter, Majdi Kara, Philipp Christoph Janiesch, Mariafrancesca Scalise, Michele Galluccio, Mateja Tesulov, Emanuela Morelli, Fatma Mujgan Sonmez, Kaya Bilguvar, Ryuichi Ohgaki, Yoshikatsu Kanai, Anide Johansen, Seham Esharif, Tawfeg Ben-Omran, Meral Topcu, Avner Schlessinger, Cesare Indiveri, Kent E Duncan, Ahmet Okay Caglayan, Murat Gunel, Joseph G Gleeson, Gaia Novarino
Autism spectrum disorders (ASD) are a group of genetic disorders often overlapping with other neurological conditions. We previously described abnormalities in the branched-chain amino acid (BCAA) catabolic pathway as a cause of ASD. Here, we show that the solute carrier transporter 7a5 (SLC7A5), a large neutral amino acid transporter localized at the blood brain barrier (BBB), has an essential role in maintaining normal levels of brain BCAAs. In mice, deletion of Slc7a5 from the endothelial cells of the BBB leads to atypical brain amino acid profile, abnormal mRNA translation, and severe neurological abnormalities...
December 1, 2016: Cell
https://www.readbyqxmd.com/read/27911897/heterologous-protection-against-asian-zika-virus-challenge-in-rhesus-macaques
#16
Matthew T Aliota, Dawn M Dudley, Christina M Newman, Emma L Mohr, Dane D Gellerup, Meghan E Breitbach, Connor R Buechler, Mustafa N Rasheed, Mariel S Mohns, Andrea M Weiler, Gabrielle L Barry, Kim L Weisgrau, Josh A Eudailey, Eva G Rakasz, Logan J Vosler, Jennifer Post, Saverio Capuano, Thaddeus G Golos, Sallie R Permar, Jorge E Osorio, Thomas C Friedrich, Shelby L O'Connor, David H O'Connor
BACKGROUND: Zika virus (ZIKV; Flaviviridae, Flavivirus) was declared a public health emergency of international concern by the World Health Organization (WHO) in February 2016, because of the evidence linking infection with ZIKV to neurological complications, such as Guillain-Barre Syndrome in adults and congenital birth defects including microcephaly in the developing fetus. Because development of a ZIKV vaccine is a top research priority and because the genetic and antigenic variability of many RNA viruses limits the effectiveness of vaccines, assessing whether immunity elicited against one ZIKV strain is sufficient to confer broad protection against all ZIKV strains is critical...
December 2016: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/27911744/dysregulation-of-mrna-localization-and-translation-in-genetic-disease
#17
Eric T Wang, J Matthew Taliaferro, Ji-Ann Lee, Indulekha P Sudhakaran, Wilfried Rossoll, Christina Gross, Kathryn R Moss, Gary J Bassell
RNA-binding proteins (RBPs) acting at various steps in the post-transcriptional regulation of gene expression play crucial roles in neuronal development and synaptic plasticity. Genetic mutations affecting several RBPs and associated factors lead to diverse neurological symptoms, as characterized by neurodevelopmental and neuropsychiatric disorders, neuromuscular and neurodegenerative diseases, and can often be multisystemic diseases. We will highlight the physiological roles of a few specific proteins in molecular mechanisms of cytoplasmic mRNA regulation, and how these processes are dysregulated in genetic disease...
November 9, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27911673/genetic-syndromes-associated-with-central-nervous-system-tumors
#18
Charmi Vijapura, Ehab Saad Aldin, Aristides A Capizzano, Bruno Policeni, Yutaka Sato, Toshio Moritani
Several genetic tumor syndromes have associated central nervous system (CNS) neoplasms. The spectrum of syndromes that have intracranial tumor manifestations includes ataxia telangiectasia, Cowden syndrome, familial adenomatous polyposis, hereditary non-polyposis-related colorectal cancer, Li-Fraumeni syndrome, Gorlin syndrome, neurofibromatosis types 1 and 2, multiple endocrine neoplasia type 1, tuberous sclerosis complex, von Hippel-Lindau disease, and Turcot syndrome. Many of these disorders are inherited in an autosomal dominant fashion, and identification of the associated genetic defects has led to improved understanding of the molecular pathways involved in tumorigenesis, helping pave the way to the emergence of molecularly targeted therapeutics...
December 2, 2016: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/27911244/neurosurgical-management-in-lateral-meningocele-syndrome-case-report
#19
Erik C Brown, Kunal Gupta, Christina Sayama
Lateral meningocele syndrome (LMS) is a rare genetic connective tissue disorder. It is associated with morphological changes similar to those of other connective tissue disorders, with the unique distinction of multiple, often bilateral and large, lateral meningoceles herniating through the spinal foramina. In some cases, these lateral meningoceles can cause pain and discomfort due to their presence within retroperitoneal tissues or cause direct compression of the spinal nerve root exiting the foramen; in some cases compression may also involve motor weakness...
December 2, 2016: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/27911079/trans-acting-epigenetic-effects-of-chromosomal-aneuploidies-lessons-from-down-syndrome-and-mouse-models
#20
Catherine Do, Zhuo Xing, Y Eugene Yu, Benjamin Tycko
An important line of postgenomic research seeks to understand how genetic factors can influence epigenetic patterning. Here we review epigenetic effects of chromosomal aneuploidies, focusing on findings in Down syndrome (DS, trisomy 21). Recent work in human DS and mouse models has shown that the extra chromosome 21 acts in trans to produce epigenetic changes, including differential CpG methylation (DS-DM), in specific sets of downstream target genes, mostly on other chromosomes. Mechanistic hypotheses emerging from these data include roles of chromosome 21-linked methylation pathway genes (DNMT3L and others) and transcription factor genes (RUNX1, OLIG2, GABPA, ERG and ETS2) in shaping the patterns of DS-DM...
December 2, 2016: Epigenomics
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