Results 81 to 90 of about 3,631,363 (269)

A 3D Geometric Morphometric Analysis of the Palatal Morphology in Marfan’s Syndrome: A Preliminary Study [PDF]

Journal of Clinical and Diagnostic Research, 2018
Introduction: Marfan’s Syndrome (MS) is a multisystem disorder of the connective tissue. A number of oral manifestations and craniofacial characteristics show a strong correlation with MS.
Giuseppina Laganà, Nicolò Venza, Valeria Paoloni, Fabio Bertoldo, Giovanni Ruvolo, Paola Cozza   +5 more
doaj   +1 more source

Case-matched Comparison of Cardiovascular Outcome in Loeys-Dietz Syndrome versus Marfan Syndrome

Journal of Clinical Medicine, 2019
Background: Pathogenic variants in TGFBR1, TGFBR2 and SMAD3 genes cause Loeys-Dietz syndrome, and pathogenic variants in FBN1 cause Marfan syndrome. Despite their similar phenotypes, both syndromes may have different cardiovascular outcomes.
Kristina Mühlstädt, J. D. De Backer, Y. von Kodolitsch, K. Kutsche, Laura Muiño Mosquera, J. Brickwedel, E. Girdauskas, T. Mir, A. Mahlmann, N. Tsilimparis, A. Staebler, Lauritz Schoof, H. Seidel, J. Berger, A. Bernhardt, S. Blankenberg, T. Kölbel, C. Detter, Katalin Szöcs, H. Kaemmerer   +19 more
semanticscholar   +1 more source

Associations Between Imaging‐Detected Pulp Calcification and Systemic Diseases: A Systematic Review, Thematic Analysis, and Meta‐Analysis

International Endodontic Journal, EarlyView.
ABSTRACT Background Pulp calcification (PC) is a common imaging finding traditionally attributed to local factors or ageing. However, increasing evidence suggests that it may be associated with broader systemic biological disturbances. Clarifying this association may help determine whether dental pulp findings contribute to the interpretation of ...
José Evando da Silva‐Filho, Paula Maria da Costa Torres, Eduardo Diogo Gurgel‐Filho   +2 more
wiley   +1 more source

A Case of Marfan Syndrome Complicated by Aortic Dissection during Pregnancy [PDF]

, 1999
Marfan syndrome is a heritable connective tissue disorder.The cardiovascular effects are life-threatening and life expectancy depends upon aortic dilatation,which results in dissection,rupture,or aortic regurgitation.
西村, 和典, 柳谷, 信之, 藤井, 尚文, 坂口, 昌幸   +3 more
core  

Economic and care considerations of Marfan syndrome

, 2016
INTRODUCTION Marfan syndrome is a rare multisystem disease of the connective tissue, which affects multiple organ systems. advances in healthcare have doubled the life-expectancy of patients over the past three decades.
Blankart, Carl Rudolf Berchtold, Schüler, Helke, Rybczynski, Meike, Milstein, Ricarda, von Kodolitsch, Yskert   +4 more
core   +1 more source

Angiotensin II type 1 receptor antagonists alleviate muscle pathology in the mouse model for laminin-alpha2-deficient congenital muscular dystrophy (MDC1A) [PDF]

, 2012
BACKGROUND: Laminin-alpha2-deficient congenital muscular dystrophy (MDC1A) is a severe muscle-wasting disease for which no curative treatment is available.
Meinen, Sarina, Markus A Ruegg, Ruegg, Markus A., Sarina Meinen, Shuo Lin, Lin, Shuo   +5 more
core   +1 more source

The effects of acute and elective cardiac surgery on the anxiety traits of patients with Marfan syndrome

BMC Psychiatry, 2017
Background Marfan syndrome is a genetic disease, presenting with dysfunction of connective tissues leading to lesions in the cardiovascular and skeletal muscle system.
Kálmán Benke, Bence Ágg, Miklós Pólos, Alex Ali Sayour, Tamás Radovits, Elektra Bartha, Péter Nagy, Balázs Rákóczi, Ákos Koller, Viola Szokolai, Julianna Hedberg, Béla Merkely, Zsolt B. Nagy, Zoltán Szabolcs   +13 more
doaj   +1 more source

Increased frequency of FBN1 frameshift and nonsense mutations in Marfan syndrome patients with aortic dissection

Molecular Genetics & Genomic Medicine, 2019
Marfan syndrome (MFS) is an inherited connective tissue disease that mainly involves Fibrillin‐1 (FBN1) mutations and aortic manifestations. In this study, we investigated the correlations between the FBN1 genotype–phenotype and aortic events (aortic ...
Shijun Xu, Lei Li, Yu-Wei Fu, Xin Wang, Hairui Sun, Jianbing Wang, Lu Han, Zi-Ning Wu, Yongmin Liu, Jun-Ming Zhu, Li-Zhong Sun, Feng Lan, Yihua He, Hong-Jia Zhang   +13 more
semanticscholar   +1 more source

A Practical Guide to Chromosome Microarray Interpretation for Paediatricians

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Introduction Chromosome microarray (CMA) is a test commonly ordered by general paediatricians. It has diagnostic yield between 10%–15% in individuals with neurodevelopmental delay, autism and/or multiple congenital abnormalities. CMA identifies copy number variants (CNV) including deletions and duplications, which may be pathogenic, variants ...
Zachary E. McPherson, Margit Shah, Sarah Josephi‐Taylor, Brieana Dance, Benjamin Nash, Luke St Heaps, Dale Wright, Janette Hayward, Christopher Elliot, Joshua Steadson, Alan Ma   +10 more
wiley   +1 more source

Visual outcome and surgical results in children with Marfan syndrome

Clinical and Experimental Ophthalmology, 2019
To determine visual and surgical results in children with Marfan syndrome.
Sandra Rezar-Dreindl, E. Stifter, T. Neumayer, A. Papp, A. Gschliesser, U. Schmidt-Erfurth   +5 more
semanticscholar   +1 more source