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https://www.readbyqxmd.com/read/28454473/methylation-pattern-of-preferentially-expressed-antigen-of-melanoma-in-acute-myeloid-leukemia-and-myelodysplastic-syndromes
#1
Ya-Zhen Qin, Yan-Huan Zhang, Xiao-Ying Qin, Hong-Hu Zhu
Preferentially expressed antigen of melanoma (PRAME), a tumor-associated antigen, is overexpressed in a variety of hematologic malignancies with a great variation in expression. The majority of patients with acute myeloid leukemia (AML) 1-eight-twenty one (ETO)(+) AML and a certain number of myelodysplastic syndromes (MDS) have an abnormally high increase in PRAME expression level. The landscape of PRAME methylation requires evaluation in order to determine the most relevant sites and the exact association of its methylation with expression level and type of disease...
April 2017: Oncology Letters
https://www.readbyqxmd.com/read/28454448/gnaq-mutation-r183q-as-a-potential-cause-of-familial-sturge-weber-syndrome-a-case-report
#2
Zhengyi Huang, Yuchi Li, Zengxia Zhao, Jun Hu, Xiaoxin Tong, Xuhui Chen, Shuyun Liu, Xiaonan Xu, Yongjun Tao, Tingting Wang, Xin Cheng, Yangyang Dai, Yaoting Gui, Jun Wu
Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder whose etiology remains unclear. To investigate the genetic contribution underlying this disease, the genetic variants of a 4-generation family with a history of SWS was analyzed in the present study. SWS was diagnosed in 3 of the family members (II-1, III-11 and IV-6). Sanger sequencing was performed to identify mutations in G protein subunit αq (GNAQ) and RAS p21 protein activator 1 exons in the 3 patients with SWS and other unaffected family members...
April 2017: Oncology Letters
https://www.readbyqxmd.com/read/28454331/centrosome-amplification-in-chondrosarcomas-a-primary-cell-culture-and-cryopreserved-tumor-sample-study
#3
Carla Aparecida Pinheiro, Iberê Cauduro Soares, Valter Penna, Jeremy Squire, Rui Manuel Vieira Reis, Sandra Regina Morini da Silva, Isabela de Carvalho, Marjori Leiva Camparoto, Maicon Fernando Zanon da Silva, Adhemar Longatto Longatto Filho
The genetics background underlying the aggressiveness of chondrosarcoma (CS) is poorly understood. One possible cause of malignant transformation is chromosomal instability, which involves an error in mitotic segregation due to numerical and/or functional abnormalities of centrosomes. The present study aimed to evaluate centrosome amplification in cryopreserved samples of tumor tissue from patients with CS. An analysis was performed on 3 primary cultures of tumors from patients who underwent surgery between January 2012 and December 2012 at the Department of Orthopedics at the Barretos Cancer Hospital (Barretos, Brazil)...
March 2017: Oncology Letters
https://www.readbyqxmd.com/read/28454282/gastrointestinal-tract-cancers-genetics-heritability-and-germ-line-mutations
#4
Xiao-Peng Lv
Gastrointestinal (GI) tract cancers that arise due to genetic mutations affect a large number of individuals worldwide. Even though many of the GI tract cancers arise sporadically, few of these GI tract cancers harboring a hereditary predisposition are now recognized and well characterized. These include Cowden syndrome, MUTYH-associated polyposis, hereditary pancreatic cancer, Lynch syndrome, Peutz-Jeghers syndrome, familial adenomatous polyposis (FAP), attenuated FAP, serrated polyposis syndrome, and hereditary gastric cancer...
March 2017: Oncology Letters
https://www.readbyqxmd.com/read/28454200/-genetic-causes-of-endocrine-diseases-using-the-example-of%C3%A2-endocrine-tumor-syndromes
#5
Nicole Unger, Anna Lisa Klocker, Dagmar Führer
No abstract text is available yet for this article.
May 2017: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28453870/clinically-relevant-discordances-identified-after-tertiary-reassessment-of-fetuses-with-isolated-congenital-diaphragmatic-hernia
#6
Elisa Done, Leonardo Gucciardo, Tim Van Mieghem, Koen Devriendt, Karel Allegaert, Paul Brady, Roland Devlieger, Luc De Catte, Liesbeth Lewi, Jan Deprest
OBJECTIVE: Fetoscopic Endoluminal Tracheal Occlusion (FETO) may improve outcome of severe isolated Congenital Diaphragmatic Hernia (iCDH). We aimed to identify any discrepancy between initial assessment at the referring hospital and the evaluation at the fetal surgery center, and to document parental decisions following counseling for fetal surgery. DESIGN: Single centre retrospective study on patients with presumed iCDH either referred for assessment and counseling or referred for fetal surgery...
April 28, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28453858/digenic-inheritance-of-prokr2-and-wdr11-mutations-in-pituitary-stalk-interruption-syndrome
#7
Shana E McCormack, Dong Li, Yeon Joo Kim, Ji Young Lee, Soo-Hyun Kim, Robert Rapaport, Michael A Levine
Context: Pituitary stalk interruption syndrome (PSIS, ORPHA95496) is a congenital defect of the pituitary gland characterized by the triad of a very thin/interrupted pituitary stalk, an ectopic (or absent) posterior pituitary gland, and hypoplasia or aplasia of the anterior pituitary gland. Complex genetic patterns of inheritance of this disorder are increasingly recognized. Objective: The objective of this study was to identify a genetic etiology of PSIS in an affected child...
April 27, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28453600/whole-exome-sequencing-in-eight-thai-patients-with-leber-congenital-amaurosis-reveals-mutations-in-the-ctnna1-and-cyp4v2-genes
#8
Worapoj Jinda, Todd D Taylor, Yutaka Suzuki, Wanna Thongnoppakhun, Chanin Limwongse, Patcharee Lertrit, Adisak Trinavarat, La-Ongsri Atchaneeyasakul
Purpose: Our goal was to describe the clinical and molecular genetic findings in Thai patients with Leber congenital amaurosis (LCA). Methods: Whole exome sequencing (WES) was performed in eight unrelated patients. All genes responsible for inherited retinal diseases (IRDs) based on RetNet were selected for analysis. Potentially causative variants were filtered through a bioinformatics pipeline and validated using Sanger sequencing. Segregation analysis of the causative genes was performed in family members when available...
April 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28453375/genetic-factors-influencing-the-reduction-of-central-corneal-thickness-in-disorders-affecting-the-eye
#9
Joanna Swierkowska, Marzena Gajecka
BACKGROUND: The aim was to summarize and discuss the current knowledge about genetic factors influencing the reduction of central corneal thickness (CCT) in disorders affecting the eye, such as primary open-angle glaucoma (POAG), brittle cornea syndrome (BCS), keratoconus (KTCN), Ehlers-Danlos syndrome (EDS; types I, II, and VI), osteogenesis imperfecta (OI), and myopia. MATERIALS AND METHODS: A review of the published literature by use of key databases such as PubMed was undertaken in accordance with PRISMA guidelines and experience based on own research findings was applied...
April 28, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28449223/the-impact-of-a-sibling-s-life-limiting-genetic-condition-on-adult-brothers-and-sisters
#10
Erica Brown, Jane Coad, Anita Franklin
It is estimated that rare diseases affect the lives of over three million people in the United Kingdom. Of these, a significant proportion are children and young people with genetic life-limiting or life-shortening conditions. This study used a qualitative approach with in-depth semi-structured interviews to explore the experiences of 10 adult siblings of a baby diagnosed with Trisomy 13 (Patau syndrome) or Trisomy 18 (Edward syndrome). Findings illustrate that parental grief from the time of their child's diagnosis onward is also experienced by siblings...
April 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28449065/a-homozygous-missense-mutation-in-eral1-encoding-a-mitochondrial-rrna-chaperone-causes-perrault-syndrome
#11
Iliana A Chatzispyrou, Marielle Alders, Sergio Guerrero-Castillo, Ruben Zapata Perez, Martin A Haagmans, Laurent Mouchiroud, Janet Koster, Rob Ofman, Frank Baas, Hans R Waterham, Johannes N Spelbrink, Johan Auwerx, Marcel M Mannens, Riekelt H Houtkooper, Astrid S Plomp
Perrault syndrome (PS) is a rare recessive disorder characterized by ovarian dysgenesis and sensorineural deafness. It is clinically and genetically heterogeneous, and previously mutations have been described in different genes, mostly related to mitochondrial proteostasis. We diagnosed three unrelated females with PS and set out to identify the underlying genetic cause using exome sequencing. We excluded mutations in the known PS genes, but identified a single homozygous mutation in the ERAL1 gene (c.707A>T; p...
April 25, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28448680/22q11-2-deletion-syndrome-lowers-seizure-threshold-in-adult-patients-without-epilepsy
#12
Robert G Wither, Felippe Borlot, Alex MacDonald, Nancy J Butcher, Eva W C Chow, Anne S Bassett, Danielle M Andrade
OBJECTIVE: Previous studies examining seizures in patients with 22q11.2 deletion syndrome (22q11.2DS) have focused primarily on children and adolescents. In this study we investigated the prevalence and characteristics of seizures and epilepsy in an adult 22q11.2DS population. METHODS: The medical records of 202 adult patients with 22q11.2DS were retrospectively reviewed for documentation of seizures, electroencephalography (EEG) reports, and magnetic resonance imaging (MRI) findings...
April 27, 2017: Epilepsia
https://www.readbyqxmd.com/read/28448595/hantavirus-surveillance-and-genetic-diversity-targeting-small-mammals-at-camp-humphreys-a-us-military-installation-and-new-expansion-site-republic-of-korea
#13
Heung-Chul Kim, Won-Keun Kim, Terry A Klein, Sung-Tae Chong, Peter V Nunn, Jeong-Ah Kim, Seung-Ho Lee, Jin Sun No, Jin-Won Song
Small mammal surveillance was conducted (2008-2010, 2012) at Camp (Cp) Humphreys, a US Army installation and new expansion site, Republic of Korea (ROK), to identify hemorrhagic fever with renal syndrome health threats to US military/civilian populations during its ongoing expansion phase. Small mammals were collected using Sherman live capture traps and transported to Korea University where they were euthanized, tissues removed, and assayed to determine hantavirus IgG antibody-positive and hantavirus-positive rates by RT-PCR...
2017: PloS One
https://www.readbyqxmd.com/read/28448442/rai1-haploinsufficiency-is-associated-with-social-abnormalities-in-mice
#14
Nalini R Rao, Clemer Abad, Irene C Perez, Anand K Srivastava, Juan I Young, Katherina Walz
Background: Autism is characterized by difficulties in social interaction, communication, and repetitive behaviors; with different degrees of severity in each of the core areas. Haploinsufficiency and point mutations of RAI1 are associated with Smith-Magenis syndrome (SMS), a genetic condition that scores within the autism spectrum range for social responsiveness and communication, and is characterized by neurobehavioral abnormalities, intellectual disability, developmental delay, sleep disturbance, and self-injurious behaviors...
April 27, 2017: Biology
https://www.readbyqxmd.com/read/28448010/murine-left-anterior-descending-lad-coronary-artery-ligation-an-improved-and-simplified-model-for-myocardial-infarction
#15
Karla Reichert, Bonnie Colantuono, Isabella McCormack, Fernanda Rodrigues, Vasile Pavlov, M Ruhul Abid
Ischemic heart disease (IHD), or acute coronary syndrome (ACS), is one of the leading causes of death in the United States. IHD is characterized by reduced blood supply to the heart, resulting in the loss of oxygen to and the ensuing necrosis of the heart muscle. The MI model has gained popularity for its use as a short-term ischemia-reperfusion model and a long-term permanent ligation model. Below, we describe a reliable method for the permanent ligation of the LAD. With mouse genetic engineering technology becoming more advanced, and with an increasing availability of quality murine surgical instruments, the mouse has become a popular model for MI surgeries...
April 2, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28447248/somatic-setbp1-mutations-in-myeloid-neoplasms
#16
REVIEW
Hideki Makishima
SETBP1 is a SET-binding protein regulating self-renewal potential through HOXA-protein activation. Somatic SETBP1 mutations were identified by whole exome sequencing in several phenotypes of myelodysplastic/myeloproliferative neoplasms (MDS/MPN), including atypical chronic myeloid leukemia, chronic myelomonocytic leukemia, and juvenile myelomonocytic leukemia as well as in secondary acute myeloid leukemia (sAML). Surprisingly, its recurrent somatic activated mutations are located at the identical positions of germline mutations reported in congenital Schinzel-Giedion syndrome...
April 26, 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/28446873/novel-vps13a-gene-mutations-identified-in-patients-diagnosed-with-chorea-acanthocytosis-chac-case-presentation-and-literature-review
#17
Yan Shen, Xiaoming Liu, Xi Long, Chao Han, Fang Wan, Wenliang Fan, Xingfang Guo, Kai Ma, Shiyi Guo, Luxi Wang, Yun Xia, Ling Liu, Jinsha Huang, Zhicheng Lin, Nian Xiong, Tao Wang
Chorea-acanthocytosis (ChAc) is a rare autosomal recessive inherited syndrome characterized by hyperkinetic movements, seizures, cognitive impairment, neuropsychiatric symptoms, elevated serum biochemical indicators and acanthocytes detection in peripheral blood smear. Vacuolar protein sorting 13A (VPS13A) gene mutations have been proven to be genetically responsible for the pathogenesis of ChAc. Herein, based on the typical clinical symptoms and neuroimaging features, we present two suspected ChAc cases which are further genetically confirmed by four novel VPS13A gene mutations...
2017: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/28446798/novel-missense-mutation-in-dll4-in-a-japanese-sporadic-case-of-adams-oliver-syndrome
#18
Miwako Nagasaka, Mariko Taniguchi-Ikeda, Hidehito Inagaki, Yuya Ouchi, Daisuke Kurokawa, Keiji Yamana, Risa Harada, Kandai Nozu, Yoshitada Sakai, Sushil K Mishra, Yoshiki Yamaguchi, Ichiro Morikoka, Tatsushi Toda, Hiroki Kurahashi, Kazumoto Iijima
Adams-Oliver syndrome (AOS, OMIM; 100300) is a rare genetic disease characterized by aplasia cutis congenita, terminal transverse limb defects and cutis marmorata with vascular anomalies such as congenital heart defects. The etiology of this syndrome has remained largely unknown but defective Notch signaling during vascular formation has been suggested. Here we describe a sporadic Japanese newborn case with clinically diagnosed AOS. Trio whole-exome sequencing identified a de novo, novel, heterozygous missense mutation in the Delta-like 4 ligand gene (DLL4 c...
April 27, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28446620/how-to-win-the-hiv-1-drug-resistance-hurdle-race-running-faster-or-jumping-higher
#19
REVIEW
Anna Garbelli, Valentina Riva, Emmanuele Crespan, Giovanni Maga
Infections by the human immunodeficiency virus type 1 (HIV-1), the causative agent of the acquired immunodeficiency syndrome (AIDS), are still totaling an appalling 36.7 millions worldwide, with 1.1 million AIDS deaths/year and a similar number of yearly new infections. All this, in spite of the discovery of HIV-1 as the AIDS etiological agent more than 30 years ago and the introduction of an effective combinatorial antiretroviral therapy (cART), able to control disease progression, more than 20 years ago. Although very effective, current cART is plagued by the emergence of drug-resistant viral variants and most of the efforts in the development of novel direct-acting antiviral agents (DAAs) against HIV-1 have been devoted toward the fighting of resistance...
April 26, 2017: Biochemical Journal
https://www.readbyqxmd.com/read/28446600/management-of-suspected-monogenic-lung-fibrosis-in-a-specialised-centre
#20
Raphael Borie, Caroline Kannengiesser, Flore Sicre de Fontbrune, Laurent Gouya, Nadia Nathan, Bruno Crestani
At least 10% of patients with interstitial lung disease present monogenic lung fibrosis suspected on familial aggregation of pulmonary fibrosis, specific syndromes or early age of diagnosis. Approximately 25% of families have an identified mutation in genes mostly involved in telomere homeostasis, and more rarely in surfactant homeostasis.Beyond pathophysiological knowledge, detection of these mutations has practical consequence for patients. For instance, mutations involved in telomere homeostasis are associated with haematological complications after lung transplantation and may require adapted immunosuppression...
June 30, 2017: European Respiratory Review: An Official Journal of the European Respiratory Society
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