MASS syndrome

Common Name(s)

MASS syndrome, Mitral valve prolapse, aortic enlargement, skin and skeletal findings, MASS Phenotype

MASS (mitral valve prolapse, aortic enlargement, skin and skeletal findings) syndrome is a genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individualÕs symptoms.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "MASS syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "MASS syndrome" returned 171 free, full-text research articles on human participants. First 3 results:

Association of body mass index, waist circumference, and metabolic syndrome with serum cystatin C in a Chinese population.
 

Author(s): Xin Ying, Yan Jiang, Guangming Qin, Yafang Qian, Xiaoru Shen, Zhenyan Jiang, Shu Zheng, Zhenya Song

Journal: Medicine (Baltimore). 2017 Mar;96(10):e6289.

 

The aim of the study was to evaluate the association of body mass index (BMI), waist circumference (WC), and metabolic syndrome (MetS) with serum cystatin C (CysC) in a Chinese population.

Last Updated: 8 Mar 2017

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Seizure syndrome as a first manifestation of solitary tumor-like mass lesion of PACNS: Two case reports.
 

Author(s): De-Sheng Zhu, Xiao-Li Yang, Hui-Hui Lv, Chen-Guang Bai, Pang-Pan Yang, Ze-Zhi Li, Yong Hao, Ying Zhang, Yang-Tai Guan

Journal: Medicine (Baltimore). 2017 Mar;96(9):e6018.

 

Primary angiitis of the central nervous system (PACNS) is an inflammatory disease involving cerebrovascular and parenchymal, and solitary tumor-like mass lesion of PACNS (TLML-PACNS) is frequently misdiagnosed as neoplastic or other inflammatory diseases. However, seizure syndrome ...

Last Updated: 1 Mar 2017

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Circulatory microRNA 23a and microRNA 23b and polycystic ovary syndrome (PCOS): the effects of body mass index and sex hormones in an Eastern Han Chinese population.
 

Author(s): Weixi Xiong, Ying Lin, Lili Xu, Amin Tamadon, Shien Zou, Fubo Tian, Ruijin Shao, Xin Li, Yi Feng

Journal:

 

MicroRNAs (miRNAs) regulate the expression of genes involved in various cellular functions related to metabolism, inflammation, and reproduction. This study evaluated the effects of sex hormones and obesity on the expression of circulating miR-23a and miR-23b in women with polycystic ...

Last Updated: 14 Feb 2017

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "MASS syndrome" returned 2 free, full-text review articles on human participants. First 3 results:

Mass Spectrometry-based Proteomics in Acute Respiratory Distress Syndrome: A Powerful Modality for Pulmonary Precision Medicine.
 

Author(s): Xue-Feng Xu, Hua-Ping Dai, Yan-Ming Li, Fei Xiao, Chen Wang

Journal: Chin. Med. J.. 2016 10;129(19):2357-64.

 

Acute respiratory distress syndrome (ARDS) is an acute and lethal clinical syndrome that is characterized by hypoxemic respiratory failure and diffuse alveolar inflammatory damage. This review aimed to search and discuss the mass spectrometry (MS)-based proteomic studies on different ...

Last Updated: 20 Sep 2016

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Recurrent intracardiac mass in a pregnant woman with antiphospholipid syndrome.
 

Author(s): V Matos, B Pinheiro, P Maia, H Leite, A Coelho, A Fernandes

Journal: Acta Med Port. 1994 Dec;7 Suppl 1():S56-60.

 

Clinical manifestations of the antiphospholipid syndrome result from thromboembolic phenomena that occur in all vascular territories. Cardiac manifestations frequently associated with this syndrome include valvular and myocardial lesions. We present a case report of primary antiphospholipid ...

Last Updated: 26 Sep 1995

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 23 Jun 2016

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Low-dose IL-2 ( Interleukin-2) Treatment in Macrophage Activation Syndrome(MAS)
 

Status: Recruiting

Condition Summary: Macrophage Activation Syndrome

 

Last Updated: 4 Oct 2015

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Treatment of Macrophage Activation Syndrome (MAS) With Anakinra
 

Status: Recruiting

Condition Summary: Macrophage Activation Syndrome

 

Last Updated: 28 Dec 2016

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