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Incidental genetic finding

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https://www.readbyqxmd.com/read/29434686/pulmonary-alveolar-microlithiasis-a-case-report-and-review-of-the-literature
#1
Xu-Dong Zhang, Jin-Ming Gao, Jin-Mei Luo, Yu Zhao
Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disease characterized by the formation of calcium phosphate microliths in the alveoli. Mutations in the gene encoding the solute carrier family 34 member 2 gene are considered to be involved in the pathogenesis of PAM. Although PAM can develop in children, the majority of patients with PAM are diagnosed in adulthood due to the slow progressive nature of the disease within the lungs. In childhood, the majority of patients with PAM are asymptomatic and changes in the lung parenchyma are usually identified incidentally...
January 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29387327/association-of-limb-girdle-muscular-dystrophy-with-multiple-sclerosis-a-case-report
#2
Mahsa Arzani, Hamed Rezaei, Abdorreza Naser Moghadasi
Background: The association of limb-girdle muscular dystrophy (LGMD) with other neurological disorders is uncommon. Case presentation: We report a 25-year-old female with LGMD who suffered from slowly progressive proximal muscular weakness and atrophy since she was 12 years of age. The patient recently presented with acute loss of left side visual acuity. After evaluation, findings were suggestive of multiple sclerosis. Conclusions: This is the first report of LGMD in association with MS...
2018: Caspian Journal of Internal Medicine
https://www.readbyqxmd.com/read/29372848/hepatic-epithelioid-hemangioendothelioma
#3
Lynette L Studer, Dale M Selby
Epithelioid hemangioendothelioma is a rare vascular tumor, composed of epithelioid and histiocytoid vascular endothelial cells in myxoid or fibrotic stroma, which can arise in multiple locations throughout the body. In the liver, this neoplasm usually presents on imaging as an incidental finding of multifocal, heterogeneously enhancing nodules in both lobes or presents clinically with nonspecific abdominal symptoms. Histologically, the tumor has been mistaken for metastatic carcinoma, angiosarcoma, hepatocellular carcinoma, and cholangiocarcinoma...
February 2018: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/29340884/-i-would-like-to-discuss-it-further-with-an-expert-a-focus-group-study-of-finnish-adults-perspectives-on-genetic-secondary-findings
#4
M Vornanen, K Aktan-Collan, N Hallowell, H Konttinen, H Kääriäinen, A Haukkala
Lowered costs of genomic sequencing facilitate analyzing large segments of genetic data. Ethical debate has focused on whether and what kind of incidental or secondary findings (SFs) to report, and how to obtain valid informed consent. However, people's support needs after receiving SFs have received less attention. We explored Finnish adults' perspectives on reporting genetic SFs. In this qualitative study which included four focus group discussions (N = 23) we used four vignette letters, each reporting a genetic SF predisposing to a different disease: familial hypercholesterolemia, long QT syndrome, Lynch syndrome, and Li-Fraumeni syndrome...
January 16, 2018: Journal of Community Genetics
https://www.readbyqxmd.com/read/29325607/genetic-and-genomic-testing-for-neurologic-disease-in-clinical-practice
#5
Brent L Fogel
The influence of genetics on neurologic disease is broad and it is becoming more common that clinicians are presented with a patient whose disease is likely of genetic origin. In the search for mutations causing Mendelian disorders, advances in genetic testing methodology have propelled modern neurologic practice beyond single-gene testing into the realm of genomic medicine, where routine evaluations encompass hundreds or thousands of genes, or even the entire exome, representing all protein-coding genes in the genome...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29296726/novel-approach-to-genetic-analysis-and-results-in-3000-hemophilia-patients-enrolled-in-the-my-life-our-future-initiative
#6
Jill M Johnsen, Shelley N Fletcher, Haley Huston, Sarah Roberge, Beth K Martin, Martin Kircher, Neil C Josephson, Jay Shendure, Sarah Ruuska, Marion A Koerper, Jaime Morales, Glenn F Pierce, Diane J Aschman, Barbara A Konkle
Hemophilia A and B are rare, X-linked bleeding disorders. My Life, Our Future (MLOF) is a collaborative project established to genotype and study hemophilia. Patients were enrolled at US hemophilia treatment centers (HTCs). Genotyping was performed centrally using next-generation sequencing (NGS) with an approach that detected common F8 gene inversions simultaneously with F8 and F9 gene sequencing followed by confirmation using standard genotyping methods. Sixty-nine HTCs enrolled the first 3000 patients in under 3 years...
May 23, 2017: Blood Advances
https://www.readbyqxmd.com/read/29285586/intracranial-ewing-sarcoma-four-pediatric-examples
#7
Michael J Yang, Ros Whelan, Jennifer Madden, Jean M Mulcahy Levy, B K Kleinschmidt-DeMasters, Todd C Hankinson, Nicholas K Foreman, Michael H Handler
BACKGROUND: Ewing sarcoma typically arises in bone and is unrelated to intraparenchymal small blue cell embryonal central nervous system (CNS) tumors previously designated primitive neuroectodermal tumors (PNETs). When the CNS is impacted, it is usually secondary to local extension from either the epidural space, skull, or intracranial or spinal metastases. Primary examples within the cranial vault are rare, usually dural-based, and are largely case reports in the literature. We detail four pediatric patients with solitary, primary intracranial Ewing sarcoma, all manifesting the archetypal EWRS1 gene rearrangement that confirms diagnosis...
December 28, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29250697/two-girl-patients-with-medulloblastoma-case-reports
#8
Laura Daniela Marinău, Cristina Elena Singer, Cristian Meşină, Elena Carmen Niculescu, Ileana Puiu, Ileana Octavia Petrescu, Cristiana Geormăneanu, Augustina Cornelia Enculescu, Daniela Elise Tache, Ştefana Oana Purcaru, Simona Răciulă, Cosmina Lucia Damian
In childhood, the most common type of brain tumors is medulloblastoma, a highly malignant primary brain tumor that is found in the cerebellum or posterior fossa. The tumor mass increases and generates obstructive hydrocephalus. Risk factors (that might be involved in some cases) include the genetic syndrome such as type 1 neurofibromatosis, exposure to ionizing radiation and Epstein-Barr virus. Medulloblastoma is associated with recessively inherited Turcot disease and with conditions as ataxia-telangiectasia syndrome in several cases...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/29247119/applying-high-resolution-variant-classification-to-cardiac-arrhythmogenic-gene-testing-in-a-demographically-diverse-cohort-of-sudden-unexplained-deaths
#9
Ying Lin, Nori Williams, Dawei Wang, William Coetzee, Bo Zhou, Lucy S Eng, Sung Yon Um, Ruijun Bao, Orrin Devinsky, Thomas V McDonald, Barbara A Sampson, Yingying Tang
BACKGROUND: Genetic variant interpretation contributes to testing yield differences reported for sudden unexplained death. Adapting a high-resolution variant interpretation framework, which considers disease prevalence, reduced penetrance, genetic heterogeneity, and allelic contribution to determine the maximum tolerated allele count in gnomAD, we report an evaluation of cardiac channelopathy and cardiomyopathy genes in a large, demographically diverse sudden unexplained death cohort that underwent thorough investigation in the United States' largest medical examiner's office...
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29215645/cherchez-la-femme-maternal-incidental-findings-can-explain-discordant-prenatal-cell-free-dna-sequencing-results
#10
REVIEW
Diana W Bianchi
Circulating DNA fragments in a pregnant woman's plasma derive from three sources: placenta, maternal bone marrow, and fetus. Prenatal sequencing to noninvasively screen for fetal chromosome abnormalities is performed on this mixed sample; results can therefore reflect the maternal as well as the fetoplacental DNA. Although it is recommended that pretest counseling include the possibility of detecting maternal genomic imbalance, this seldom occurs. Maternal abnormalities that can affect a prenatal screening test result include disorders that affect the size and metabolism of DNA, such as B12 deficiency, autoimmune disease, and intrahepatic cholestasis of pregnancy...
December 7, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29204794/thoracic-aortic-aneurysm-unlocking-the-silent-killer-secrets
#11
Ayman A Saeyeldin, Camilo A Velasquez, Syed Usman B Mahmood, Adam J Brownstein, Mohammad A Zafar, Bulat A Ziganshin, John A Elefteriades
Thoracic aortic aneurysm (TAA) is an increasingly recognized condition that is often diagnosed incidentally. This review discusses ten of the most relevant epidemiological and clinical secrets of this disease; (1) the difference in pathogenesis between ascending and descending TAAs. TAAs at these two sites act as different diseases, which is related to the different embryologic origins of the ascending and descending aorta. (2) The familial pattern and genetics of thoracic aneurysms. Syndromic TAAs only explain 5% of the pattern of inheritance...
December 4, 2017: General Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29187190/ethical-considerations-in-forensic-genetics-research-on-tissue-samples-collected-post-mortem-in-cape-town-south-africa
#12
Laura J Heathfield, Sairita Maistry, Lorna J Martin, Raj Ramesar, Jantina de Vries
BACKGROUND: The use of tissue collected at a forensic post-mortem for forensic genetics research purposes remains of ethical concern as the process involves obtaining informed consent from grieving family members. Two forensic genetics research studies using tissue collected from a forensic post-mortem were recently initiated at our institution and were the first of their kind to be conducted in Cape Town, South Africa. MAIN BODY: This article discusses some of the ethical challenges that were encountered in these research projects...
November 29, 2017: BMC Medical Ethics
https://www.readbyqxmd.com/read/29131714/understanding-variations-in-secondary-findings-reporting-practices-across-u-s-genome-sequencing-laboratories
#13
Sara Ackerman, Barbara Koenig
BACKGROUND: Increasingly used for clinical purposes, genome and exome sequencing can generate clinically relevant information that is not directly related to the reason for testing (incidental or secondary findings). Debates about the ethical implications of secondary findings were sparked by the American College of Medical Genetics (ACMG)'s 2013 policy statement, which recommended that laboratories report pathogenic alterations in 56 genes. Although wide variation in laboratories' secondary findings policies has been reported, little is known about its causes...
November 13, 2017: AJOB Empirical Bioethics
https://www.readbyqxmd.com/read/29096897/current-approaches-to-diagnosis-and-treatment-of-ductal-carcinoma-in-situ-and-future-directions
#14
Randi Ryan, Ossama Tawfik, Roy A Jensen, Shrikant Anant
The presentation and treatment of ductal carcinoma in situ (DCIS) has changed substantially over the years. While previously an incidental pathologic finding in more advanced, palpable tumors, the institution of screening mammography has repositioned this disease entity as one largely diagnosed as a non-palpable lesion, often prior to any invasive disease. As DCIS is a precursor to invasive carcinoma, evolution in the approach to treatment has followed in the footsteps of that for invasive disease, including breast conservation therapy, adjuvant radiation, and use of antihormonal therapy...
2017: Progress in Molecular Biology and Translational Science
https://www.readbyqxmd.com/read/29069390/crimetoyhu-a-new-web-tool-to-develop-yeast-based-functional-assays-for-characterizing-cancer-associated-missense-variants
#15
Alberto Mercatanti, Samuele Lodovichi, Tiziana Cervelli, Alvaro Galli
Evaluation of functional impact of cancer-associated missense variants is more difficult to assess as compared to protein-truncating mutations and, consequently, standard guidelines for the interpretation of sequence variants have been recently proposed. A number of algorithms and software products were developed to predict the impact of cancer-associated missense mutations on protein structure and function. Importantly, direct assessment of the variants using high-throughput functional assays using simple genetic systems can help in speeding up the functional evaluation of newly identified cancer associated variants...
October 23, 2017: FEMS Yeast Research
https://www.readbyqxmd.com/read/28994108/value-of-a-molecular-screening-program-to-support-clinical-trial-enrollment-in-asian-cancer-patients-the-integrated-molecular-analysis-of-cancer-imac-study
#16
Valerie Heong, Nicholas L Syn, Xiao Wen Lee, Nur Sabrina Sapari, Xue Qing Koh, Zul Fazreen Adam Isa, Joey Sy Lim, Diana Lim, Brendan Pang, Yee Liang Thian, Lai Kuan Ng, Andrea L Wong, Ross Andrew Soo, Wei Peng Yong, Cheng Ean Chee, Soo-Chin Lee, Boon-Cher Goh, Richie Soong, David S P Tan
The value of precision oncology initiatives in Asian contexts remains unresolved. Here we review the institutional implementation of prospective molecular screening to facilitate accrual of patients into biomarker-driven clinical trials, and to explore the mutational landscape of advanced tumors occurring in a prospective cohort of Asian patients (n = 396) with diverse cancer types. Next-generation sequencing (NGS) and routine clinicopathological assays such as immunohistochemistry, copy number analysis, and in situ hybridization tests were performed on tumor samples...
October 9, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28976722/whole-exome-sequencing-as-a-diagnostic-adjunct-to-clinical-testing-in-a-tertiary-referral-cohort-of-3988-fetuses-with-structural-abnormalities
#17
Fang Fu, Ru Li, Yan Li, Zhi-Qiang Nie, Ting-Ying Lei, Dan Wang, Xin Yang, Jin Han, Min Pan, Li Zhen, Yan-Mei Ou, Jian Li, Fao-Tao Li, Xiang-Yi Jing, Dong-Zhi Li, Can Liao
OBJECTIVES: To evaluate the diagnostic yield of exome sequencing in diagnosing monogenic disorders in fetuses with structural malformations and to describe the information on pathogenic variants that is provided by exome sequencing. METHODS: Sequentially performed karyotyping, chromosomal microarray analysis(CMA) and WES on a retrospectively series of fetuses with structural abnormalities, diagnostic rates of three techniques overall and for phenotypic subgroups, and informations on pathogenic variants identified by exome sequencing...
October 4, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28974871/imperforate-hymen-varied-presentation-new-associations-and-management
#18
Raghu Sampally Ramareddy, Anjala Kumar, Anand Alladi
AIM: Imperforate hymen is an isolated and sporadic event. The aim of this study was to report varied clinical and management problems of consecutive imperforate hymen in children and to compare the genetic review with literature. MATERIALS AND METHODS: This is a retrospective analysis of eight consecutive imperforate hymen children admitted during 2010-2015. RESULTS: Among eight girls, two were infants and six were in the adolescent group...
October 2017: Journal of Indian Association of Pediatric Surgeons
https://www.readbyqxmd.com/read/28973705/identification-and-management-of-tp53-gene-carriers-detected-through-multigene-panel-testing
#19
Tuya Pal, Jennifer Brzosowicz, Ailyn Valladares, Georgia L Wiesner, Christine Laronga
OBJECTIVES: The increasing use of multigene panel tests may reveal an unexpected pathogenic variant in the tumor protein p53 (TP53) gene among individuals who do not meet clinical criteria for Li-Fraumeni syndrome (LFS). Among a registry-based sample of individuals with a pathogenic (P) or likely pathogenic (LP) variant in TP53, we sought to characterize the original clinical context in which genetic testing was performed, the personal and family history and whether they met clinical LFS criteria, and the follow-up care following diagnosis among those in whom this information was available...
October 2017: Southern Medical Journal
https://www.readbyqxmd.com/read/28973585/characteristics-of-unruptured-compared-to-ruptured-intracranial-aneurysms-a-multicenter-case-control-study
#20
Isabel C Hostettler, Varinder S Alg, Nichole Shahi, Fatima Jichi, Stephen Bonner, Daniel Walsh, Diederik Bulters, Neil Kitchen, Martin M Brown, Henry Houlden, Joan Grieve, David J Werring
BACKGROUND: Only a minority of intracranial aneurysms rupture to cause subarachnoid hemorrhage. OBJECTIVE: To test the hypothesis that unruptured aneurysms have different characteristics and risk factor profiles compared to ruptured aneurysms. METHODS: We recruited patients with unruptured aneurysms or aneurysmal subarachnoid hemorrhages at 22 UK hospitals between 2011 and 2014. Demographic, clinical, and imaging data were collected using standardized case report forms...
July 25, 2017: Neurosurgery
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