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Cardiovascular genetic counseling

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https://www.readbyqxmd.com/read/28475226/molecular-cytogenetic-characterization-of-five-f8-complex-rearrangements-utility-for-haemophilia-a-genetic-counselling
#1
Y Jourdy, N Chatron, M Fretigny, M L Carage, H Chambost, S Claeyssens-Donadel, V Roussel-Robert, C Negrier, D Sanlaville, C Vinciguerra
BACKGROUND: Genomic inversions are usually balanced, but unusual patterns have been described in haemophilia A (HA) patients for intron 22 (Inv22) and intron 1 (Inv1) inversions leading to the hypothesis of more complex rearrangements involving deletions or duplications. AIM: To characterize five abnormal patterns either in Southern blot and long-range PCR for Inv22 or in PCR for Inv1. MATERIALS AND METHODS: All patients were studied using cytogenetic microarray analysis (CMA)...
May 5, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28397213/-analysis-of-genome-wide-copy-number-variations-among-fetuses-with-abnormalities-detected-by-prenatal-ultrasouography
#2
Ke Wu, Shaohua Tang, Chong Chen, Huanzheng Li, Lili Zhou, Jianxin Lyu
OBJECTIVE: To explore the genetic etiology of fetal abnormalities detected by prenatal ultrasound through single nucleotide polymorphism (SNP array) analysis. METHODS: Two hundred and eight fetuses were tested with SNP array and conventional karyotyping. Complex copy number variations (CNVs) were verified with fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA) and quantitative fluorescence polymerase chain reaction (QF-PCR)...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28383366/a-novel-case-of-autosomal-dominant-cutis-laxa-in-a-consanguineous-family-report-and-literature-review
#3
Mehmet B Duz, Emre Kirat, Paul J Coucke, Erkan Koparir, Alper Gezdirici, Anne De Paepe, Bert Callewaert, Mehmet Seven
Autosomal dominant cutis laxa (ADCL, OMIM #123700) is a rare connective tissue disorder characterized by loose, redundant skin folds that may be apparent form birth or appear later in life. Most severely affected areas are the neck, axillar regions, trunk, and groin. Typically, patients present with characteristic facial features including a premature aged appearance, long philtrum, a high forehead, large ears, and a beaked nose. Cardiovascular and pulmonary complications include bicuspid aortic valves, aortic root dilatation, and emphysema...
April 5, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28283918/at-the-heart-of-the-pregnancy-what-prenatal-and-cardiovascular-genetic-counselors-need-to-know-about-maternal-heart-disease
#4
REVIEW
Ana Morales, Dawn C Allain, Patricia Arscott, Emily James, Gretchen MacCarrick, Brittney Murray, Crystal Tichnell, Amy R Shikany, Sara Spencer, Sara M Fitzgerald-Butt, Jessica D Kushner, Christi Munn, Emily Smith, Katherine G Spoonamore, Harikrishna S Tandri, W Aaron Kay
In the last decade, an increasing number of cardiac conditions have been shown to have a genetic basis. Cardiovascular genetic counseling has emerged as a subspecialty aiming to identify unaffected at-risk individuals. An important sector of this at-risk population also includes expectant mothers, in whom unique clinical challenges may arise. Genetic counselors, especially those in cardiovascular and prenatal settings, have an opportunity to identify and assist women who may benefit from cardiovascular care during pregnancy...
March 10, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28259368/practices-and-attitudes-of-canadian-cardiologists-caring-for-patients-with-trisomy-18
#5
Aisling A Young, Christy Simpson, Andrew E Warren
Trisomy 18 (T18) is a genetic disorder with cardiac lesions in up to 90% of patients. Cardiac surgery is not frequently offered because of the overall poor prognosis, although this has recently been challenged. Our study aimed to explore the practices and attitudes of Canadian pediatric cardiologists managing T18 patients. We administered a survey to pediatric cardiologists attending the Canadian Cardiovascular Congress, Canadian Pediatric Cardiology Association Business Meeting. There were 30 respondents. Most (67%) supported comfort care for affected patients with a heart lesion...
April 2017: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/28235819/does-the-risk-of-hospitalisation-for-ischaemic-heart-disease-rise-already-before-widowhood
#6
Elina Einiö, Heta Moustgaard, Pekka Martikainen, Taina Leinonen
BACKGROUND: The death of a spouse has been shown to increase mortality from various causes, including ischaemic heart disease. It is unclear, however, whether cardiac problems are already on the rise before widowhood. METHODS: Using longitudinal register data of Finnish widows-to-be aged 65 and over at baseline (N=19 185), we assessed the risk of hospitalisation for ischaemic heart disease 18 months before and after widowhood. Hospital admissions were derived from national hospital discharge registers between 1996 and 2002...
February 24, 2017: Journal of Epidemiology and Community Health
https://www.readbyqxmd.com/read/28063875/clinical-worthlessness-of-genetic-prediction-of-common-forms-of-diabetes-mellitus-and-related-chronic-complications-a-position-statement-of-the-italian-society-of-diabetology
#7
REVIEW
R Buzzetti, S Prudente, M Copetti, M Dauriz, S Zampetti, M Garofolo, G Penno, V Trischitta
AIM: We are currently facing several attempts aimed at marketing genetic data for predicting multifactorial diseases, among which diabetes mellitus is one of the more prevalent. The present document primarily aims at providing to practicing physicians a summary of available data regarding the role of genetic information in predicting diabetes and its chronic complications. DATA SYNTHESIS: Firstly, general information about characteristics and performance of risk prediction tools will be presented in order to help clinicians to get acquainted with basic methodological information related to the subject at issue...
February 2017: Nutrition, Metabolism, and Cardiovascular Diseases: NMCD
https://www.readbyqxmd.com/read/28045975/titin-truncating-variants-in-dilated-cardiomyopathy-prevalence-and-genotype-phenotype-correlations
#8
Maria Franaszczyk, Przemyslaw Chmielewski, Grazyna Truszkowska, Piotr Stawinski, Ewa Michalak, Malgorzata Rydzanicz, Malgorzata Sobieszczanska-Malek, Agnieszka Pollak, Justyna Szczygieł, Joanna Kosinska, Adam Parulski, Tomasz Stoklosa, Agnieszka Tarnowska, Marcin M Machnicki, Bogna Foss-Nieradko, Malgorzata Szperl, Agnieszka Sioma, Mariusz Kusmierczyk, Jacek Grzybowski, Tomasz Zielinski, Rafal Ploski, Zofia T Bilinska
TTN gene truncating variants are common in dilated cardiomyopathy (DCM), although data on their clinical significance is still limited. We sought to examine the frequency of truncating variants in TTN in patients with DCM, including familial DCM (FDCM), and to look for genotype-phenotype correlations. Clinical cardiovascular data, family histories and blood samples were collected from 72 DCM probands, mean age of 34 years, 45.8% FDCM. DNA samples were examined by next generation sequencing (NGS) with a focus on the TTN gene...
2017: PloS One
https://www.readbyqxmd.com/read/28028964/genetic-factors-in-selected-complex-congenital-malformations-with-cleft-defect
#9
REVIEW
Piotr Wójcicki, Maciej J Koźlik, Karolina Wójcicka
Cleft lips, alveolar ridges and palates are among the most common birth defects. There are over 500 different complex genetic disorders that include cleft defects. The most common related defects include abnormalities of the skeleton, skull, cardiovascular and nervous system. The occurrence of a cleft results from the interplay of multiple genes and environmental factors. Several thousand different mutations responsible for these syndromes have been discovered, whereas there are still numerous phenotypic cases of unknown genetic origin...
September 2016: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/27958623/clinical-expression-of-holt-oram-syndrome-on-the-basis-of-own-clinical-experience-considering-prenatal-diagnosis
#10
Zofia Walencka, Aleksander Jamsheer, Piotr Surmiak, Małgorzata Baumert, Aleksandra Jezela-Stanek, Andrzej Witek, Anna Materna-Kiryluk, Anna Latos-Bieleńska, Magdalena Socha, Anna Sowińska-Seidler
OBJECTIVES: Holt-Oram syndrome manifests with defects of upper limbs, pectoral girdle and cardiovascular system. The aim of this paper was to present complex clinical picture of the syndrome and its variable expression on the example of the family diagnosed genetically on the neonatal ward, after proband's prenatal examination. MARETIAL AND METHODS: Nine family members were tested for TBX5 gene mutation. RESULTS: Four of family members were diagnosed with Holt-Oram syndrome and five had correct genetic test results...
2016: Ginekologia Polska
https://www.readbyqxmd.com/read/27741188/disorders-of-sexual-development-in-adult-women
#11
Veronica Gomez-Lobo, Anne-Marie Amies Oelschlager
Disorders (differences) of sexual development encompass a variety of conditions with atypical development of chromosomal, gonadal, or anatomic sex. Three of the most common differences of sex development conditions include congenital adrenal hyperplasia, complete androgen insensitivity, and Turner syndrome. Obstetrician-gynecologists who care for affected individuals in their practice must be familiar with the genetic, endocrine, and anatomic considerations of the most common conditions to provide optimal care...
November 2016: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27677773/patient-centered-interventions-to-improve-adherence-to-statins-a-narrative-synthesis-of-systematically-identified-studies
#12
REVIEW
Magnus Jörntén-Karlsson, Stéphane Pintat, Michael Molloy-Bland, Staffan Berg, Matti Ahlqvist
Poor adherence to statins increases cardiovascular disease risk. We systematically identified 32 controlled studies that assessed patient-centered interventions designed to improve statin adherence. The limited number of studies and variation in study characteristics precluded strict quality criteria or meta-analysis. Cognitive education or behavioural counselling delivered face-to-face multiple times consistently improved statin adherence compared with control groups (7/8 and 3/3 studies, respectively). None of four studies using medication reminders and/or adherence feedback alone reported significantly improved statin adherence...
October 2016: Drugs
https://www.readbyqxmd.com/read/27641144/high-burden-of-genetic-conditions-diagnosed-in-a-cardiac-neurodevelopmental-clinic
#13
Paula C Goldenberg, Betsy J Adler, Ashley Parrott, Julia Anixt, Karen Mason, Jannel Phillips, David S Cooper, Stephanie M Ware, Bradley S Marino
BACKGROUND: There is a known high prevalence of genetic and clinical syndrome diagnoses in the paediatric cardiac population. These disorders often have multisystem effects, which may have an important impact on neurodevelopmental outcomes. Taken together, these facts suggest that patients and families may benefit from consultation by genetic specialists in a cardiac neurodevelopmental clinic. OBJECTIVE: This study assessed the burden of genetic disorders and utility of genetics evaluation in a cardiac neurodevelopmental clinic...
September 19, 2016: Cardiology in the Young
https://www.readbyqxmd.com/read/27515814/aortic-complications-associated-with-pregnancy-in-marfan-syndrome-the-nhlbi-national-registry-of-genetically-triggered-thoracic-aortic-aneurysms-and-cardiovascular-conditions-gentac
#14
Mary J Roman, Norma L Pugh, Tabitha P Hendershot, Richard B Devereux, Hal Dietz, Kathryn Holmes, Kim A Eagle, Scott A LeMaire, Dianna M Milewicz, Shaine A Morris, Reed E Pyeritz, William J Ravekes, Ralph V Shohet, Michael Silberbach
BACKGROUND: The risk of aortic complications associated with pregnancy in women with Marfan syndrome (MFS) is not fully understood. METHODS AND RESULTS: MFS women participating in the large National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) were evaluated. Among 184 women with MFS in whom pregnancy information was available, 94 (51%) had a total of 227 pregnancies. Among the women with pregnancies, 10 (10...
August 11, 2016: Journal of the American Heart Association
https://www.readbyqxmd.com/read/27379245/genetic-evaluation-and-use-of-chromosome-microarray-in-patients-with-isolated-heart-defects-benefits-and-challenges-of-a-new-model-in-cardiovascular-care
#15
REVIEW
Benjamin M Helm, Samantha L Freeze
Congenital heart defects (CHDs) are common birth defects and result in significant morbidity and global economic impact. Genetic factors play a role in most CHDs; however, identification of these factors has been historically slow due to technological limitations and incomplete understanding of the impact of human genomic variation on normal and abnormal cardiovascular development. The advent of chromosome microarray (CMA) brought tremendous gains in identifying chromosome abnormalities in a variety of human disorders and is now considered part of a standard evaluation for individuals with multiple congenital anomalies and/or neurodevelopmental disorders...
2016: Frontiers in Cardiovascular Medicine
https://www.readbyqxmd.com/read/27232650/methylphenidate-in-pregnancy-a-multicenter-prospective-comparative-observational-study
#16
Orna Diav-Citrin, Svetlana Shechtman, Judy Arnon, Rebecka Wajnberg, Cornelia Borisch, Evelin Beck, Jonathan Luke Richardson, Pina Bozzo, Irena Nulman, Asher Ornoy
INTRODUCTION: Methylphenidate is a central nervous system stimulant medicinally used in the treatment of attention-deficit disorder with or without hyperactivity (ADD/ADHD). Data on its use in human pregnancy are limited. The primary objective of the study was to evaluate the risk of major congenital anomalies after pregnancy exposure to methylphenidate for medical indications. METHODS: In a prospective, comparative, multicenter observational study performed in 4 participating Teratology Information Services (in Jerusalem, Berlin, Newcastle upon Tyne, and Toronto) between 1996 and 2013, methylphenidate-exposed pregnancies were compared with pregnancies counseled for nonteratogenic exposure (NTE) after matching by maternal age, gestational age, and year at initial contact...
May 24, 2016: Journal of Clinical Psychiatry
https://www.readbyqxmd.com/read/27130656/mthfr-addressing-genetic-counseling-dilemmas-using-evidence-based-literature
#17
REVIEW
Brooke Levenseller Levin, Elizabeth Varga
The 5, 10 methylenetetrahydrofolate reductase (MTHFR) enzyme is a catalyst in the folate metabolism pathway, the byproducts of which are involved in the remethylation of homocysteine to methionine. Methionine is a precursor for a major DNA methyl donor and is important for DNA methylation and gene regulation. Rare mutations in the MTHFR gene have been associated with autosomal recessive MTHFR deficiency leading to homocystinuria. In addition, two polymorphic variants in this gene (C677T and A1298C) have been implicated in a mild form of MTHFR deficiency associated with hyperhomocysteinemia...
October 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27084548/increased-cardiovascular-risks-associated-with-familial-inbreeding-a-population-based-study-of-adolescent-cohort
#18
Mohd Fareed, Mohammad Afzal
PURPOSE: Cardiovascular diseases are the leading cause of mortality and morbidity among humans worldwide. We aimed to estimate the effect of familial inbreeding on cardiovascular risks. METHODS: The study was conducted during April 2014 through June 2014, and a total of 587 adolescent subjects (male = 270, female = 317; 11-18 years of age) were recruited from five Muslim populations viz., Gujjar and Bakarwal (n = 130), Mughal (n = 111), Malik (n = 114), Syed (n = 108), and Khan (n = 124)...
April 2016: Annals of Epidemiology
https://www.readbyqxmd.com/read/26965545/fasting-or-nonfasting-lipid-measurements-it-depends-on-the-question
#19
REVIEW
Steven L Driver, Seth S Martin, Ty J Gluckman, Julie M Clary, Roger S Blumenthal, Neil J Stone
In the 2013 American College of Cardiology (ACC)/American Heart Association Guideline (AHA) on the Treatment of Blood Cholesterol to Reduce Atherosclerotic Cardiovascular Risk in Adults, low-density lipoprotein cholesterol treatment thresholds have been replaced with a focus on global risk. In this context, we re-examine the need for fasting lipid measurements in various clinical scenarios including estimating initial risk for atherosclerotic cardiovascular disease in a primary prevention patient; screening for familial lipid disorders in a patient with a strong family history of premature atherosclerotic cardiovascular disease or genetic dyslipidemia; clarifying a diagnosis of metabolic syndrome so it can be used to make lifestyle counseling more effective; assessing residual risk in a treated patient; diagnosing and treating patients with suspected hypertriglyceridemic pancreatitis; or diagnosing hypertriglyceridemia in patients who require therapy for other conditions that may further elevate triglycerides...
March 15, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/26899278/the-increase-in-the-rate-of-maternal-deaths-related-to-cardiovascular-disease-in-japan-from-1991-1992-to-2010-2012
#20
Hiroaki Tanaka, Shinji Katsuragi, Kazuhiro Osato, Junichi Hasegawa, Masahiko Nakata, Takeshi Murakoshi, Jun Yoshimatsu, Akihiko Sekizawa, Naohiro Kanayama, Isamu Ishiwata, Tomoaki Ikeda
BACKGROUND: Cardiovascular diseases (CVD), both genetic and acquired, increase the risk of maternal death (MD) unless proper genetic/clinical counseling is provided and a multidisciplinary approach is adopted during pregnancy. In recent decades, there has been a significant increase in the number of women with CVD of child-bearing age and in the incidence of pregnancy among relatively older women. However, the impact of this phenomenon on MD has not been carefully investigated. METHODS: This retrospective study compares the incidence and etiology of maternal deaths related to cardiovascular disease (MD-CVD) in Japan in 2010-2012 to that seen in 1991-1992...
January 2017: Journal of Cardiology
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