Results 21 to 30 of about 15,745 (181)

Gelatinolytic activity in gingival crevicular fluid and saliva of growing patients with Marfan syndrome: a case-control study

BMC Oral Health, 2019
Background Aim of the study was to evaluate the gelatinolytic activity in the saliva and gingival crevicular fluid from a sample group of subjects with Marfan syndrome. Methods Two groups were analyzed in this case-control study.
Giuseppina Laganà, Giovanni Francesco Fasciglione, Andrea Biondi, Massimiliano Coletta, Giovanni Ruvolo, Paola Cozza   +5 more
doaj   +1 more source

Two Novel Pathogenic FBN1 Variations and Their Phenotypic Relationship of Marfan Syndrome

Global Medical Genetics, 2020
Marfan syndrome is an autosomal dominant disease affecting connective tissue involving the ocular, skeletal systems with a prevalence of 1/5,000 to 1/10,000 cases.
Sinem Yalcintepe, Selma Demir, Emine Ikbal Atli, Murat Deveci, Engin Atli, Hakan Gurkan   +5 more
doaj   +1 more source

Like Father, Like Daughter—inherited cutis aplasia occurring in a family with Marfan syndrome: a case report

Clinical Case Reports, 2017
Key Clinical Message We present the case of a newborn with co‐occurrence of Marfan syndrome and aplasia cutis congenita (ACC) and a family history significant for Marfan syndrome and ACC in the father.
Yasmin Florence Khodeja Islam, Charles A. Williams, Jennifer Jane Schoch, Israel David Andrews   +3 more
doaj   +1 more source

A De Novo Missense MYLK Variant Leading to Nonsyndromic Thoracic Aortic Aneurysm and Dissection Identified by Segregation Analysis

Case Reports in Genetics
Nonsyndromic hereditary thoracic aortic aneurysm and dissection (TAAD) is an autosomal dominant disease; however, it is frequently difficult to identify the causative genes.
Daigo Nishijo, Hiroki Yagi, Nana Akiyama, Norifumi Takeda, Masahiko Ando, Haruo Yamauchi, Norihiko Takeda, Issei Komuro   +7 more
doaj   +1 more source

Structural and Signaling Mechanisms of Aortic Wall Failure in Heritable Thoracic Aortic Disease

Cells
Heritable thoracic aortic diseases (HTAD) are inherited conditions that increase the risk of thoracic aortic aneurysms, dissections, and premature aortic rupture.
Norifumi Takeda, Hiroki Yagi, Takayuki Fujiwara, Hitomi Aono-Setoguchi, Ryo Inuzuka, Issei Komuro   +5 more
doaj   +1 more source

Clinical Outcomes and Patient Experiences With Celiprolol Therapy in Vascular Ehlers–Danlos Syndrome: The First Non‐European Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder caused by heterozygous pathogenic variants in COL3A1. European studies have shown that celiprolol may reduce the risk of life‐threatening vascular events, but outcomes in non‐European populations and the therapy's psychological impact remain unclear. We conducted
Megumi Furuhata‐Yoshimura, Tomomi Yamaguchi, Tomoki Kosho   +2 more
wiley   +1 more source

A large French family with TGFBR2 pathogenic variant: illustration of variability

Orphanet Journal of Rare Diseases
Aims To report aortic events in a large family carrying a variant in the TGFBR2 gene. Methods Since 1990 up to 2024, we have conducted a longitudinal clinical study of a large single family comprising 63 members across four generations who carry the same
Ludivine Eliahou, Olivier Milleron, Skerdi Haviari, Florence Arnoult, Nadine Hanna, Pauline Arnaud, Fadima Toure, Sabrine Jadoui, Arienne Mirmiran, Catherine Boileau, Guillaume Jondeau   +10 more
doaj   +1 more source

Online Personal Training in Patients With Marfan Syndrome: A Randomized Controlled Study of Its Impact on Quality of Life and Physical Capacity

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Marfan syndrome (MFS) is a genetic disorder affecting the vascular and musculoskeletal systems. Limited knowledge exists regarding the exercise benefits for this population.
Steeve Jouini, Olivier Milleron, Ludivine Eliahou, Guillaume Jondeau, Damien Vitiello   +4 more
doaj   +1 more source

Marfan Syndrome, Not Marfan’s Syndrome [PDF]

Circulation, 1999
To the Editor: I read with interest the case of infantile Marfan syndrome reported by Doroshow, Lin, and Milliken.1 But I wish they would not use the possessive form of Marfan syndrome. Use of eponyms for diseases is a common practice in medicine. It often conveys a nice sense of …
openaire   +1 more source

Marfan's syndrome: an overview [PDF]

Sao Paulo Medical Journal, 2010
Marfan's syndrome is an autosomal dominant condition with an estimated prevalence of one in 10,000 to 20,000 individuals. This rare hereditary connective tissue disorder affects many parts of the body. The diagnosis of Marfan's syndrome is established in accordance with a review of the diagnostic criteria, known as the Ghent nosology, through a ...
Yuan, Shi-Min, Jing, Hua
openaire   +5 more sources