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https://www.readbyqxmd.com/read/28652531/long-term-outcome-of-aortic-root-remodeling-for-patients-with-and-without-acute-aortic-dissection
#1
Takashi Kunihara, Niklas Neumann, Steffen Daniel Kriechbaum, Ryota Nomura, Hans-Joachim Schäfers
BACKGROUND: Valve-preserving aortic surgery is increasingly used in acute aortic dissection type A (AADA). The object of this study was to compare the long-term results of aortic root remodeling (remodeling) for patients with and without AADA.Methods and Results:Between October 1995 and December 2013, 776 patients underwent valve-preserving root replacement, of whom 59 patients with AADA (<2 weeks from onset, 56±16 years, 48 male) underwent remodeling (the remodeling-group); 7 patients had bicuspid anatomy (12%), 3 had Marfan syndrome (5%), and 1 had undergone previous cardiac surgery (2%)...
June 23, 2017: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/28650953/de-novo-paternal-fbn1-mutation-detected-in-embryos-before-implantation
#2
Shuling Wang, Ziru Niu, Hui Wang, Minyue Ma, Wei Zhang, Shu Fang Wang, Jun Wang, Hong Yan, Yifan Liu, Na Duan, Xiandong Zhang, Yuanqing Yao
BACKGROUND Marfan syndrome (MFS) is an autosomal dominant disease caused by mutations in the Fibrillin (FBN)1 gene and characterized by disorders in the cardiovascular, skeletal, and visual systems. The diversity of mutations and phenotypic heterogeneity of MFS make prenatal molecular diagnoses difficult. In this study, we used pre-implantation genetic diagnosis (PGD) to identify the pathogenic mutation in a male patient with MFS and to determine whether his offspring would be free of the disease. MATERIAL AND METHODS The history and pedigree of the proband were analyzed...
June 26, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28648010/-experience-of-sun-s-procedure-for-chronic-type-b-dissection-with-aortic-arch-involvement
#3
R D Qi, J M Zhu, L Chen, C N Li, Z Y Qiao, L J Cheng, Y P Ge, H O Hu, Y Xia, X Y Xing, T Zheng, Y M Liu, L Z Sun
Objective: To study the surgical treatment of chronic type B dissection with aortic arch involvement using Sun's procedure. Methods: Between February 2009 and December 2015, 29 patients [20 males, 9 females, with a mean age of (41±12) years, range 24-64 years] with type B dissection with aortic arch involvement underwent Sun's procedure. Sixteen patient had a history of hypertension. Marfan syndrome was observed in 9 cases, coronary artery disease in 3 cases, mitral regurgitation in 3 patients, cerebrovascular disease in one patient...
June 27, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28647097/type-a-dissections-in-patients-with-marfan-syndrome-when-less-is-not-more
#4
EDITORIAL
Jennifer J Chung, Jonathan Gordon, Pavan Atluri
No abstract text is available yet for this article.
May 31, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28646716/histopathologic-differences-partially-distinguish-syndromic-aortic-diseases
#5
Kevin M Waters, Lisa M Rooper, Andrew Guajardo, Marc K Halushka
A variety of syndromic diseases such as Marfan syndrome, Loeys-Dietz syndrome, and bicuspid aortic valve with aneurysm along with risk factors of smoking and hypertension result in ascending aortic aneurysms and dissections. Historically, a complicated variety of terms have been used to describe a range of histopathologies that are present in resected specimens. As a result, no consistent patterns of histopathology have been reported. We used the recent Society for Cardiovascular Pathology/Association for European Cardiovascular Pathology consensus statement on nomenclature and diagnostic criteria for noninflammatory aortic disease to blindly evaluate 148 surgically resected specimens...
June 15, 2017: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
https://www.readbyqxmd.com/read/28616536/nt-probnp-and-diastolic-left-ventricular-function-in-patients-with-marfan-syndrome
#6
Petra Gehle, Peter N Robinson, Frank Heinzel, Frank Edelmann, Mustafa Yigitbasi, Felix Berger, Volkmar Falk, Burkert Pieske, Ernst Wellnhofer
AIMS: Subclinical diastolic dysfuntion in patients with preclinical heart failure with preserved ejection fraction (HFpEF) has been demonstrated in patients with Marfan syndrome (MFS). We investigated the relationship between diastolic dysfunction and NT-proBNP levels in patients with MFS. METHODS AND RESULTS: NT-proBNP, C-reactive protein (CRP) and diastolic function were assessed in 217 patients with MFS (31 ± 16 y, 110 f. and in 339 patients referred for suspected MFS in whom the diagnosis was ruled out according to the Ghent nosology (30 ± 15 y, 154 f)...
September 2016: IJC Heart & Vasculature
https://www.readbyqxmd.com/read/28616354/comparing-american-european-and-asian-practice-guidelines-for-aortic-diseases
#7
Jose Rozado, Maria Martin, Isaac Pascual, Daniel Hernandez-Vaquero, Cesar Moris
The aortic disease comprises a group of different pathologies of high prevalence, seriousness and ever changing by the medical and surgical investigations. Therefore cardiovascular scientific societies in USA, Europe and Asia have created Task Force on practice guidelines (PG) to develop, update and revise PG for aortic diseases. These documents issue recommendations on the diagnosis and management of different aortic diseases. The three societies agree on the recommendations about diagnostic tests and on the value of computed tomography and magnetic resonance as the main tools for the diagnosis and follow-up of aortic disease...
May 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28616337/strategies-to-prevent-aortic-complications-in-marfan-syndrome
#8
EDITORIAL
Lucio Sartor, Alberto Forteza
No abstract text is available yet for this article.
May 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28611929/epidural-anesthesia-for-cesarean-section-in-a-pregnant-woman-with-marfan-syndrome-and-dural-ectasia
#9
Franco Pepe, Mariagrazia Stracquadanio, Francesco De Luca, Agata Privitera, Elisabetta Sanalitro, Puccio Scarpinati
Marfan syndrome (MFS) is a genetic disorder of connective tissue, characterized by variable clinical features and multisystem complications. The anesthetic management during delivery is debated. Regional anesthesia has been used with success during cesarean delivery, but in some MFS patients there is a probability of erratic and inadequate spread of intrathecal local anesthetics as a result of dural ectasia. In these cases, epidural anesthesia may be a particularly useful technique during cesarean delivery because it allows an adequate spread and action of local anesthetic with a controlled onset of anesthesia, analgesia, and sympathetic block and a low risk of perioperative complications...
2017: Case Reports in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28609711/birth-characteristics-of-women-with-marfan-syndrome-obstetric-and-neonatal-outcomes-of-their-pregnancies-a-nationwide-cohort-and-case-control-study
#10
Kristina Kernell, Gunilla Sydsjö, Marie Bladh, Ann Josefsson
OBJECTIVE: The aim was to investigate birth characteristics, obstetric and neonatal outcomes of the first childbirth in women with Marfan syndrome by use of Swedish national registers since pregnancy-related outcomes in women with Marfan syndrome have only been sparsely investigated. STUDY DESIGN: In this national population-based cohort study and matched case-control study of Swedish women born 1973-1993, women with Marfan syndrome (n=273) were compared to women without the condition (n=1 017 265)...
June 1, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28607545/the-genetics-of-aortopathies-in-clinical-cardiology
#11
REVIEW
Amit Goyal, Ali R Keramati, Matthew J Czarny, Jon R Resar, Arya Mani
Aortopathies pose a significant healthcare burden due to excess early mortality, increasing incidence, and underdiagnosis. Understanding the underlying genetic causes, early diagnosis, timely surveillance, prophylactic repair, and family screening are keys to addressing these diseases. Next-generation sequencing continues to expand our understanding of the genetic causes of heritable aortopathies, rapidly clarifying their underlying molecular pathophysiology and suggesting new potential therapeutic targets...
2017: Clinical Medicine Insights. Cardiology
https://www.readbyqxmd.com/read/28606654/management-of-marfan-syndrome-during-pregnancy-a-real-world-experience-from-a-joint-cardiac-obstetric-service
#12
Joanna C E-S Lim, Matthew Cauldwell, Roshni R Patel, Anselm Uebing, Ruth A Curry, Mark R Johnson, Michael A Gatzoulis, Lorna Swan
BACKGROUND: Pregnancy in Marfan Syndrome (MFS) is associated with increased maternal risk of cardiovascular events. Given the maternal and genetic risks, pre-conception counselling is essential to facilitate informed choices. Multidisciplinary antenatal care with regular imaging is mandatory and best delivered through a Joint Cardiac Obstetric Service (JCOS). The aim of this study was to compare the care delivered in a JCOS against recognised international standards (European Society of Cardiology (ESC))...
May 22, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28605402/sparse-redundancy-analysis-of-high-dimensional-genetic-and-genomic-data
#13
Attila Csala, Frans P J M Voorbraak, Aeilko H Zwinderman, Michel H Hof
Motivation: Recent technological developments have enabled the possibility of genetic and genomic integrated data analysis approaches, where multiple omics data sets from various biological levels are combined and used to describe (disease) phenotypic variations. The main goal is to explain and ultimately predict phenotypic variations by understanding their genetic basis and the interaction of the associated genetic factors. Therefore, understanding the underlying geneticmechanisms of phenotypic variations is an ever increasing research interest in biomedical sciences...
June 12, 2017: Bioinformatics
https://www.readbyqxmd.com/read/28602317/new-capsular-tension-segment-with-2-point-fixation-for-zonular-weakness
#14
Malkit K Singh, Balamurali K Ambati, Alan S Crandall
We describe clinical applications and surgical techniques for a new type of capsular tension segment (CTS) for use during cataract surgery. The Ambati CTS is distinguished from other CTS devices by having 2 eyelets close to each other, which allows it to distribute tension to 2 points, avoiding too much stress at a single point on the anterior capsulotomy, which prevents peaking of the capsulorhexis, and potentially reducing the risk for anterior capsule tear. Two of these CTS devices could possibly be used to provide 4-point fixation of a capsular bag in eyes with near-complete zonular instability...
May 2017: Journal of Cataract and Refractive Surgery
https://www.readbyqxmd.com/read/28600893/pregnancy-marfan-syndrome-and-type-b-aortic-dissection
#15
Mark R Johnson, Jolien W Roos Hesselink
Sayama et al describe the outcome of 17 pregnancies in 15 women with a clinical or genetic diagnosis of Marfan syndrome (MS) as per the revised Ghent criteria (Dietz et al, J Med Genet. 2010;47;476-85). Five patients (5 pregnancies) had undergone aortic root replacement prior to pregnancy and 10 (12 pregnancies) had not. A type B aortic dissection AD(B) occurred in 3 of the 5 with prior aortic root replacement (ARR) and 1 of the 10, without. This case series reminds us of critically important points in the management of pregnant women with MS who have undergone ARR...
June 10, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28600389/marfan-syndrome-always-evolving
#16
EDITORIAL
Guillaume Jondeau, Catherine Boileau, Olivier Milleron
No abstract text is available yet for this article.
June 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28600386/associations-of-age-and-sex-with-marfan-phenotype-the-national-heart-lung-and-blood-institute-gentac-genetically-triggered-thoracic-aortic-aneurysms-and-cardiovascular-conditions-registry
#17
Mary J Roman, Richard B Devereux, Liliana R Preiss, Federico M Asch, Kim A Eagle, Kathryn W Holmes, Scott A LeMaire, Cheryl L Maslen, Dianna M Milewicz, Shaine A Morris, Siddharth K Prakash, Reed E Pyeritz, William J Ravekes, Ralph V Shohet, Howard K Song, Jonathan W Weinsaft
BACKGROUND: The associations of age and sex with phenotypic features of Marfan syndrome have not been systematically examined in a large cohort of both children and adults. METHODS AND RESULTS: We evaluated 789 Marfan patients enrolled in the National Heart, Lung, and Blood Institute GenTAC (Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions) Registry (53% male; mean age 31 [range: 1-86 years]). Females aged ≥15 and males aged ≥16 years were considered adults based on average age of skeletal maturity...
June 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28596305/genotype-phenotype-correlations-in-marfan-syndrome
#18
EDITORIAL
Benjamin J Landis, Gruschen R Veldtman, Stephanie M Ware
No abstract text is available yet for this article.
June 8, 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/28595698/marfan-syndrome-and-quality-of-life-in-the-gentac-registry
#19
Judith Z Goldfinger, Liliana R Preiss, Richard B Devereux, Mary J Roman, Tabitha P Hendershot, Barbara L Kroner, Kim A Eagle
BACKGROUND: Previous small studies suggested reduced quality of life (QOL) for people with Marfan syndrome (MFS) compared with those without MFS. The national registry of GenTAC (Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions) is a longitudinal observational cohort study of patients with conditions that predispose to thoracic aortic aneurysms and dissections, including MFS. At the time of registry enrollment, GenTAC study participants are asked to complete questionnaires about demographics, medical history, health habits, and QOL...
June 13, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28588436/novel-marfan-syndrome-associated-mutation-in-the-fbn1-gene-caused-by-parental-mosaicism-and-leading-to-abnormal-limb-patterning
#20
Efrén Martínez-Quintana, Noemí Caballero-Sánchez, Fayna Rodríguez-González, Paloma Garay-Sánchez, Antonio Tugores
Marfan syndrome is an autosomal dominant disorder of the connective tissue caused by mutations in the fibrillin-1 (FBN1) gene. Mutations affecting cysteine residues within the epidermal growith factor-like calcium-binding domains (EGF_CA) of FBN1 are associated with Marfan syndrome features and, especially, with ectopia lentis. We report a novel substitution, affecting the first cysteine of an EGF_CA-binding module encoded by exon 63 of FBN1 (C2571Y), in a patient presenting with typical Marfan syndrome features but without ectopia lentis...
May 2017: Molecular Syndromology
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