ALLMedicine™ Marfan Syndrome Center

May 15th, 2022 - This meta-analysis aimed to compare Marfan syndrome (MFS) patients with non-MFS populations based on orofacial health status to combine publicly available scientific information while also improving the validity of primary study findings. A compre...

May 15th, 2022 - A disproportionate tall stature is the most evident manifestation in Marfan syndrome (MFS), a multisystem condition caused by mutations in the extracellular protein and TGFβ modulator, fibrillin-1. Unlike cardiovascular manifestations, there has b...

May 14th, 2022 - Even in the absence of significant valvular disease, patients with Marfan syndrome (MFS) have evidence of impaired left ventricular (LV) performance, suggestive of a primary cardiomyopathy. However, the true prevalence and long-term outcomes of th...

May 14th, 2022 - Elastin is present in the extracellular matrix (ECM) of connective tissues, and its mechanical properties are well documented. In Marfan syndrome, however, the inability to properly code for the protein fibrillin-1 prematurely leads to the degrada...

May 12th, 2022 - Aim of this study was to explore sex and gender differences regarding aortic events in Marfan patients. We analysed all data from our connective tissue disorder database. Only patients with Marfan syndrome were included. For analysis, patients wer...

Apr 1st, 2016 - Surgical aortic specimens are usually examined in Pathology Departments as a result of treatment of aneurysms or dissections. A number of diseases, genetic syndromes (Marfan syndrome, Loeys-Dietz syndrome, etc.), and vasculopathic aging processes ...

Jan 13th, 2012 - ACMG standards and guidelines are designed primarily as an educational resource for medical geneticists and other health care providers to help them provide quality medical genetic services. Adherence to these standards and guidelines does not nec...

Jan 20th, 2022 - Thoracic aortic aneurysm (TAA) is a type of aortopathy describing dilation of the proximal aortic dimensions including the aortic root, which is a risk factor for aortic dissection and sudden cardiac death. TAA and other forms of aortopathy (e.g. ...

Apr 28th, 2021 - Bicuspid aortic valve, along with other congenital conditions affecting the aortic wall, has been associated with elastic fibre loss, decrease in size of elastic lamellae, increased collagen deposition and smooth muscle loss compared to healthy co...

Jul 29th, 2020 - The crystalline lens of the human eye helps to sharpen vision. There can be issues with the support/stability of the lens. This could be seen with the naked eye of an external observer or with the use of a slit lamp. Certain eye conditions can pre...

Mar 27th, 2020 - Marfan syndrome is characterized by musculoskeletal manifestations, cardiovascular disease and ocular abnormalities, particularly ectopia lentis. Diagnosis depends on clinical evaluation, family history and molecular data: mutation in the fibrilli...

Dec 12th, 2019 - This proposed pilot study aims to describe the use of an intervention, developed by Positive Exposure, for adolescents and young adults who may be challenged by the stigma associated with craniofacial differences. This non-profit organization uses...

Apr 15th, 2021 - Patients with aortic dissection (AD) or aortic aneurysm (AA) should not be given fluoroquinolones unless no other treatment options are available, the authors of a new report conclude. In a retrospective cohort study which used data from the Taiwa...

Dec 29th, 2020 - The Medicines and Healthcare products Regulatory Agency (MHRA) has issued a drug safety update highlighting a small risk of heart valve regurgitation with the use of systemic and inhaled fluoroquinolones. The update follows a European review of ep...

May 20th, 2019 - To the Editor: Syringomas are small, benign, asymptomatic eccrine or apocrine tumors that present as multiple discrete flesh-colored papules. They are more common in females than males.

Dec 20th, 2018 - The US Food and Drug Administration (FDA) issued a warning today that fluoroquinolone use can increase the risk of aortic aneurysm. The agency is urging healthcare providers to avoid prescribing the powerful antibiotics to patients with or at risk...

Dec 20th, 2018 - The US Food and Drug Administration (FDA) issued a warning today that fluoroquinolone use can increase the risk of aortic aneurysm. The agency is urging healthcare providers to avoid prescribing the powerful antibiotics to patients with or at risk...