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Incidental genetic finding

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https://www.readbyqxmd.com/read/28170340/adrenocortical-neoplasms-in-adulthood-and-childhood-distinct-presentation-review-of-the-clinical-pathological-and-imaging-characteristics
#1
Andréa Farias de Melo-Leite, Paula Condé Lamparelli Elias, Sara Reis Teixeira, Silvio Tucci, Gyl Eanes Barros, Sonir R Antonini, Valdair Francisco Muglia, Jorge Elias
Adrenocortical tumors (ACT) in adulthood and childhood vary in clinical, histopathological, molecular, prognostic, and imaging aspects. ACT are relatively common in adults, as adenomas are often found incidentally on imaging. ACT are rare in children, though they have a significantly higher prevalence in the south and southeast regions of Brazil. In clinical manifestation, adults with ACT present more frequently with glucocorticoid overproduction (Cushing syndrome), mineralocorticoid syndromes (Conn syndrome), or the excess of androgens in women...
February 7, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28145427/variability-in-assigning-pathogenicity-to-incidental-findings-insights-from-ldlr-sequence-linked-to-the-electronic-health-record-in-1013-individuals
#2
Maya S Safarova, Eric W Klee, Linnea M Baudhuin, Erin M Winkler, Michelle L Kluge, Suzette J Bielinski, Janet E Olson, Iftikhar J Kullo
Knowledge of variant pathogenicity is key to implementing genomic medicine. We describe variability between expert reviewers in assigning pathogenicity to sequence variants in LDLR, the causal gene in the majority of cases of familial hypercholesterolemia. LDLR was sequenced on the Illumina HiSeq platform (average read depth >200 × ) in 1013 Mayo Biobank participants recruited from 2012 to 2013. Variants with a minor allele frequency (MAF) <5% predicted to be functional or referenced in HGMD (Human Gene Mutation Database) or NCBI-ClinVar databases were reviewed...
February 1, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28141766/choroidal-nevus-a-review-of-prevalence-features-genetics-risks-and-outcomes
#3
Jason L Chien, Kareem Sioufi, Thamolwan Surakiatchanukul, Jerry A Shields, Carol L Shields
PURPOSE OF REVIEW: To review the prevalence, clinical features, imaging findings, cytogenetics, and risks and outcomes of choroidal nevus. RECENT FINDINGS: Choroidal nevus is a benign melanocytic tumor, often discovered incidentally on ophthalmic examination. This lesion is generally well circumscribed and pigmented. The prevalence of choroidal nevus in postequatorial region in United States adults (≥40 years old) is approximately 5%. Choroidal nevus is associated with higher lifetime unopposed estrogen and greater BMI...
January 30, 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28140662/pediatric-issues-in-return-of-results-and-incidental-findings-weighing-autonomy-and-best-interests
#4
Ingrid A Holm
Nowhere are the ethical issues in genomic research more complex than in pediatrics. Balancing the sometime conflicting autonomy of the parent and the child, and the best interest of the family and the child, brings up many challenging issues. Addressing this balance, especially in the context of the child's developing maturity and comprehension, requires deep analysis and discussion. Issues discussed include the impact of genetic information on the family, parental versus the child's autonomy, the best interests of the child versus the family, potential limitations on the parents' right to know or not know information about their child, and changing role of the developing child in return of research results...
January 31, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28140456/discussing-molecular-testing-in-oncology-care-comparing-patient-and-physician-information-preferences
#5
Ana P M Pinheiro, Rachel H Pocock, Jeffrey M Switchenko, Margie D Dixon, Walid L Shaib, Suresh S Ramalingam, Rebecca D Pentz
BACKGROUND: Molecular testing to inform treatment and clinical trial choices is now the standard of care for several types of cancer. However, no established guidelines exist for the type of information physicians should cover during discussions with the patient about the test or its results. The objectives of this study were to identify physician and patient preferences regarding information and who should communicate this information and how to inform guidelines for these conversations...
January 31, 2017: Cancer
https://www.readbyqxmd.com/read/28097511/brain-calcification-and-movement-disorders
#6
REVIEW
Vladimir S Kostić, Igor N Petrović
Brain calcifications may be an incidental finding on neuroimaging in normal, particularly older individuals, but can also indicate numerous hereditary and nonhereditary syndromes, and metabolic, environmental, infectious, autoimmune, mitochondrial, traumatic, or toxic disorders. Bilateral calcifications most commonly affecting the basal ganglia may often be found in idiopathic cases, and a new term, primary familial brain calcification (PFBC), has been proposed that recognizes the genetic causes of the disorder and that calcifications occurred well beyond the basal ganglia...
January 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28093708/multiple-sclerosis-and-eif2b5-a-paradox-or-a-missing-link
#7
Insha Zahoor, Ehtishamul Haq, Ravouf Asimi
Multiple sclerosis (MS) is an encumbering inflammatory condition of the central nervous system (CNS) caused by axonal demyelination. There is sufficient evidence suggesting role of eukaryotic translation initiation factor 2B (EIF2B) gene family encoding the five subunits of eIF2B complex-α, β, γ, δ and ε respectively, in causing vanishing white matter (VWM) disease of the brain. Incidentally researchers have proposed overlapping between MS and VWM in terms of clinical, biochemical and genetic aspects, which incited us to write this chapter to explore the association between EIF2B5 and MS...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28028416/right-hemispheric-leukoencephalopathy-as-an-incidental-finding-following-a-lightning-strike
#8
Jera Kruja, Altin Kuqo, Serla Grabova, Arben Rroji, Gentian Vyshka
BACKGROUND: Lightning injuries may produce a variety of medical conditions, and specific neurological complications have been identified, with the character of immediate aftershock effects or even long-term consequences. AIM: The authors describe the incidental finding following a routine unenhanced brain MRI performed to a young female patient, suffering from a headache. CASE REPORT: Diffuse white matter changes with the character of a leukoencephalopathy were seen, which strictly interested only the right cerebral hemisphere...
December 15, 2016: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/27930565/a-case-report-with-the-peculiar-concomitance-of-2-different-genetic-syndromes
#9
REVIEW
Alberto Lerario, Irene Colombo, Donatella Milani, Lorenzo Peverelli, Luisa Villa, Roberto Del Bo, Monica Sciacco, Giacomo Pietro Comi, Susanna Esposito, Maurizio Moggio
RATIONALE: Down syndrome (DS) is the most common chromosome disorder in live born infants, affecting several body systems, but usually sparing skeletal muscles. We present the case of a child with coexistence of DS and dystrophinopathy. Only 1 similar case has been reported so far. PATIENT CONCERNS: An 8-year-old boy with DS had a history of incidental finding of increased serum creatine kinase levels up to 1775 U/L (normal values 38-174 U/L). He presented no delay in motor development; at the neurological examination, no muscle weakness or fatigability was detected in 2 different evaluations performed over a 6-month period...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27882740/sporadic-pseudohypoparathyroidism-type-1b-with-asymptomatic-hypocalcemia
#10
Motohide Goto, Yukiyo Yamamoto, Masahiro Ishii, Akie Nakamura, Shinichiro Sano, Masayo Kagami, Maki Fukami, Reiko Saito, Shunsuke Araki, Kazuyasu Kubo, Rinko Kawagoe, Yasusada Kawada, Koichi Kusuhara
Pseudohypoparathyroidism type 1b (PHP-1b) is usually diagnosed on various symptoms of hypocalcemia. Previous studies reported a few cases of autosomal dominant pattern PHP-1b identified on familial analysis with asymptomatic hypocalcemia. Herein we report the case of a 6-year-old male patient with sporadic PHP-1b incidentally detected on preoperative examination. He had neither characteristic findings of Albright hereditary osteodystrophy nor evidence of tetany. Sporadic PHP-1b was diagnosed on the basis of clinical observation and laboratory examination...
November 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/27874265/incidental-brain-mri-findings-in-an-autism-twin-study
#11
Julio C Monterrey, Jennifer Philips, Sue Cleveland, Serena Tanaka, Patrick Barnes, Joachim F Hallmayer, Alan L Reiss, Laura C Lazzeroni, Antonio Y Hardan
Brain magnetic resonance imaging (MRI) studies suggest the prevalence of asymptomatic "incidental" findings (IF) in autism spectrum disorder (ASD) is similar to that of neurotypically developing (NT) controls. However, given the causes of IF may include both genetic and environmental factors, a twin study would facilitate comparing brain IF between ASD and NT subjects. MRI scans were examined to assess the prevalence of brain IF in twin "case pairs" (at least one twin with diagnosis of ASD) and twin "control pairs" (NT)...
November 22, 2016: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/27854360/recommendations-for-reporting-of-secondary-findings-in-clinical-exome-and-genome-sequencing-2016-update-acmg-sf-v2-0-a-policy-statement-of-the-american-college-of-medical-genetics-and-genomics
#12
Sarah S Kalia, Kathy Adelman, Sherri J Bale, Wendy K Chung, Christine Eng, James P Evans, Gail E Herman, Sophia B Hufnagel, Teri E Klein, Bruce R Korf, Kent D McKelvey, Kelly E Ormond, C Sue Richards, Christopher N Vlangos, Michael Watson, Christa L Martin, David T Miller
Disclaimer: These recommendations are designed primarily as an educational resource for medical geneticists and other healthcare providers to help them provide quality medical services. Adherence to these recommendations is completely voluntary and does not necessarily assure a successful medical outcome. These recommendations should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed toward obtaining the same results. In determining the propriety of any specific procedure or test, the clinician should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen...
November 17, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27811861/a-survey-of-current-practices-for-genomic-sequencing-test-interpretation-and-reporting-processes-in-us-laboratories
#13
Julianne M O'Daniel, Heather M McLaughlin, Laura M Amendola, Sherri J Bale, Jonathan S Berg, David Bick, Kevin M Bowling, Elizabeth C Chao, Wendy K Chung, Laura K Conlin, Gregory M Cooper, Soma Das, Joshua L Deignan, Michael O Dorschner, James P Evans, Arezou A Ghazani, Katrina A Goddard, Michele Gornick, Kelly D Farwell Hagman, Tina Hambuch, Madhuri Hegde, Lucia A Hindorff, Ingrid A Holm, Gail P Jarvik, Amy Knight Johnson, Lindsey Mighion, Massimo Morra, Sharon E Plon, Sumit Punj, C Sue Richards, Avni Santani, Brian H Shirts, Nancy B Spinner, Sha Tang, Karen E Weck, Susan M Wolf, Yaping Yang, Heidi L Rehm
PURPOSE: While the diagnostic success of genomic sequencing expands, the complexity of this testing should not be overlooked. Numerous laboratory processes are required to support the identification, interpretation, and reporting of clinically significant variants. This study aimed to examine the workflow and reporting procedures among US laboratories to highlight shared practices and identify areas in need of standardization. METHODS: Surveys and follow-up interviews were conducted with laboratories offering exome and/or genome sequencing to support a research program or for routine clinical services...
November 3, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27777714/giant-adrenal-cavernous-hemangioma-in-a-patient-with-familial-adenomatous-polyposis
#14
Dhouha Bacha, Abir Chaabane, Fatma Khanche, Saloua Néchi, Hassen Touinsi, Emna Chelbi
Adrenal hemangioma is an uncommon benign vascular tumor that is often discovered incidentally. It has never been reported in association with familial adenomatous polyposis. We report a case of a 60-year old man with a history of familial adenomatous polyposis, in whom a huge retroperitoneal cyst of 18x17 cm was discovered during routine radiologic evaluation. Because of the impossibility of ruling out the presence of malignancy, surgical cystectomy was performed, associated to a scheduled total colectomy. Pathological examination revealed that the cyst corresponded to an adrenal cavernous hemangioma...
August 8, 2016: Clinics and Practice
https://www.readbyqxmd.com/read/27699628/issues-arising-in-psychological-consultations-to-help-parents-talk-to-minor-and-young-adult-children-about-their-cancer-genetic-test-result-a-guide-to-providers
#15
Andrea Farkas Patenaude, Katherine A Schneider
The defining difference between genetic and traditional medicine is that genetic findings have implications not just for the patient, but also for their relatives. Discussion of a test result between parent and child is both a transformative and a translational moment in the life of a family. Parents report wanting help in talking to their children. The challenge for genetic counselors and other providers is to be able to recognize which issues are at the core of parental distress and be able to offer recommendations to empower and support parents...
October 3, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27673361/medullary-thyroid-carcinoma-associated-with-germline-ret-k666n-mutation
#16
Jian Yu Xu, Elizabeth G Grubbs, Steven G Waguespack, Camilo Jimenez, Robert F Gagel, Julie A Sosa, Rena V Sellin, Ramona Dadu, Mimi I Hu, Chardria S Trotter, Michelle Jackson, Thereasa A Rich, Samuel M Hyde, Steven I Sherman, Gilbert J Cote
BACKGROUND: Multiple endocrine neoplasia type 2 is an autosomal dominant inherited syndrome caused by activating mutations in the RET proto-oncogene. The RET(K666N) DNA variant was previously reported in two isolated medullary thyroid carcinoma (MTC) cases, but no family studies are available, and its oncogenic significance remains unknown. METHODS: The clinical features, genetic data, and family information of eight index MTC patients with a germline RET(K666N) variant were assessed...
December 2016: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/27666372/guidelines-for-large-scale-sequence-based-complex-trait-association-studies-lessons-learned-from-the-nhlbi-exome-sequencing-project
#17
Paul L Auer, Alex P Reiner, Gao Wang, Hyun Min Kang, Goncalo R Abecasis, David Altshuler, Michael J Bamshad, Deborah A Nickerson, Russell P Tracy, Stephen S Rich, Suzanne M Leal
Massively parallel whole-genome sequencing (WGS) data have ushered in a new era in human genetics. These data are now being used to understand the role of rare variants in complex traits and to advance the goals of precision medicine. The technological and computing advances that have enabled us to generate WGS data on thousands of individuals have also outpaced our ability to perform analyses in scientifically and statistically rigorous and thoughtful ways. The past several years have witnessed the application of whole-exome sequencing (WES) to complex traits and diseases...
October 6, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27647801/content-analysis-of-informed-consent-for-whole-genome-sequencing-offered-by-direct-to-consumer-genetic-testing-companies
#18
Emilia Niemiec, Pascal Borry, Wim Pinxten, Heidi Carmen Howard
Whole exome sequencing (WES) and whole genome sequencing (WGS) have become increasingly available in the research and clinical settings and are now also being offered by direct-to-consumer (DTC) genetic testing (GT) companies. This offer can be perceived as amplifying the already identified concerns regarding adequacy of informed consent (IC) for both WES/WGS and the DTC GT context. We performed a qualitative content analysis of Websites of four companies offering WES/WGS DTC regarding the following elements of IC: pre-test counseling, benefits and risks, and incidental findings (IFs)...
December 2016: Human Mutation
https://www.readbyqxmd.com/read/27639857/hyperkalemia-in-young-children-blood-pressure-checked
#19
Richard Hollander, Geert Mortier, Koen van Hoeck
: Hyperkalemia in young children is a rare phenomenon and in many cases caused by hemolysis in the specimen due to difficulties in obtaining a sample. However, hyperkalemia can also be a sign of a rare Mendelian syndrome known as familial hyperkalemic hypertension or pseudohypoaldosteronism type II. This disease is characterized by hyperkalemia, hypertension, and mild hyperchloremic metabolic acidosis (with normal anion gap) despite normal glomerular filtration. Full recovery of these abnormalities with thiazide diuretics is essential not to miss the diagnosis of this syndrome...
December 2016: European Journal of Pediatrics
https://www.readbyqxmd.com/read/27595197/exome-and-genome-sequencing-and-parallels%C3%A2-in%C3%A2-radiology-searching-for-patient-centered-management-of-incidental%C3%A2-and%C3%A2-secondary-findings
#20
Stella K Kang, Kayte Spector-Bagdady, Arthur L Caplan, R Scott Braithwaite
Incidental and secondary findings have become an important by-product of diagnostic testing, and their ramifications affect clinical care, research, and policy. Given parallels in the reporting and management of such findings on diagnostic imaging, radiologists may draw from ongoing discussions in medical genetics to rethink more patient-centered approaches to analogous clinical, ethical, and medicolegal dilemmas. Low-risk incidental findings in particular may be drivers of unnecessary testing, invasive procedures, and overtreatment, with associated financial, psychological, and clinical consequences...
December 2016: Journal of the American College of Radiology: JACR
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