The metacarpal index ? obsolete in Marfan syndrome!

1992 ◽  
Vol 21 (6) ◽  
Author(s):  
KeenanN. Joseph
Keyword(s):  
Marfan Syndrome ◽  
Metacarpal Index

Is the metacarpal index useful in the diagnosis of marfan syndrome?

1996 ◽  
Vol 51 (8) ◽  
pp. 570-574 ◽  
Author(s):  
S.M. Thomas ◽  
K.A. Younger ◽  
A. Child ◽  
A.G. Wilson
Keyword(s):  
Marfan Syndrome ◽  
Metacarpal Index

A Metatarsal Equivalent to the Metacarpal Index in Marfan Syndrome

2005 ◽  
Vol 26 (10) ◽  
pp. 881-885
Author(s):  
Ben B. Pradhan ◽  
Meenakshi Bhasin ◽  
Norman Y. Otsuka
Keyword(s):  
Connective Tissue ◽  
Marfan Syndrome ◽  
Health Care Providers ◽  
Genetic Diagnosis ◽  
Control Group ◽  
Care Providers ◽  
Connective Tissue Disorders ◽  
Metacarpal Index ◽  
Primary Health Care Providers ◽  
Foot Problems

Background: Foot problems are common in patients with Marfan syndrome because of the ligamentous laxity that affects the weightbearing joints most. Such patients frequently are seen by their general practitioners or podiatrists. Educating primary health care providers about a metatarsal index, if it is sufficiently sensitive and specific, may help patients get early and appropriate workup for connective tissue disorders. Methods: A metatarsal equivalent to the metacarpal index (MCI) in the hand was evaluated as a diagnostic tool for Marfan syndrome (and possibly other connective tissue disorders). Fifty-six patients were studied. Sixteen had a genetic diagnosis of Marfan syndrome. There were 20 controls each for the MCI and the metatarsal index (MTI). Hand and foot radiographs were reviewed. Results: The average MCI in patients with Marfan syndrome was 9.8 compared to 7.6 in the control group ( p < 0.0005). The average MTI was 12.7 and 9.8, respectively ( p < 0.0005). An MCI value of 8.5 and an MTI value of 10.5 had the best statistical profiles (combination of sensitivity and specificity) in diagnosing Marfan syndrome in our study population. Conclusion: The MTI as a screening tool for Marfan syndrome is as effective as, if not more than, the well-recognized MCI.

Banded aggregates containing fibrillin are present in the cartilage matrix adjacent to chondrocytes in individuals affected with scoliosis

1992 ◽  
Vol 50 (1) ◽  
pp. 892-893
Author(s):  
Douglas R. Keene ◽  
Magaret Fairhurst ◽  
Catherine C. Ridgway ◽  
Lynn Y. Sakai
Keyword(s):  
Connective Tissue ◽  
Marfan Syndrome ◽  
Cross Section ◽  
Immunoelectron Microscopy ◽  
Cartilage Matrix ◽  
Negative Stain ◽  
Gene Coding ◽  
Rotary Shadowing

Matrix microfibrils are present in the connective tissue matrices of all tissues. Following standard TEM processing, they appear in cross section as cylindrical fibrils 8-10 nm in diameter, often associated with amorphous elastin. They are also seen in the absence of amorphous elastin, for example in the shallow papillary layer of skin, and also in cartilage matrix (Figure 1). Negative stain and rotary shadowing studies suggest that microfibrils are composed of laterally associated globular structures connected by fine filamentous strands (“ beaded strings”), and that they are extendable. Immunoelectron microscopy has demonstrated that fibrillin, a 350 Kd glycoprotein, is distributed along all microfibrils with a relaxed periodicity of about 54 nm The gene coding for fibrillin has recently been identified and is defective in the Marfan syndrome.

Marfan Syndrome Update

2011 ◽  
Vol 44 (8) ◽  
pp. 54-55
Author(s):  
HOWARD P. LEVY
Keyword(s):  
Marfan Syndrome

Glutathione system participation in thoracic aneurysms from patients with Marfan syndrome

VASA ◽  
2017 ◽  
Vol 46 (3) ◽  
pp. 177-186 ◽  
Author(s):  
Alejandra María Zúñiga-Muñoz ◽  
Israel Pérez-Torres ◽  
Verónica Guarner-Lans ◽  
Elías Núñez-Garrido ◽  
Rodrigo Velázquez Espejel ◽  
...  
Keyword(s):  
Aortic Aneurysm ◽  
Marfan Syndrome ◽  
Aortic Aneurysms ◽  
Aortic Dilatation ◽  
Glutathione S Transferase ◽  
Reduced And Oxidized Glutathione ◽  
Total Antioxidant ◽  
Elevated Activity ◽  
Acute Dissection ◽  
Thoracic Aneurysms

Abstract. Background: Aortic dilatation in Marfan syndrome (MFS) is progressive. It is associated with oxidative stress and endothelial dysfunction that contribute to the early acute dissection of the vessel and can result in rupture of the aorta and sudden death. We evaluated the participation of the glutathione (GSH) system, which could be involved in the mechanisms that promote the formation and progression of the aortic aneurysms in MFS patients. Patients and methods: Aortic aneurysm tissue was obtained during chest surgery from eight control subjects and 14 MFS patients. Spectrophotometrical determination of activity of glutathione peroxidase (GPx), glutathione-S-transferase (GST), glutathione reductase (GR), lipid peroxidation (LPO) index, carbonylation, total antioxidant capacity (TAC), and concentration of reduced and oxidized glutathione (GSH and GSSG respectively), was performed in the homogenate from aortic aneurysm tissue. Results: LPO index, carbonylation, TGF-β1, and GR activity were increased in MFS patients (p < 0.04), while TAC, GSH/GSSG ratio, GPx, and GST activity were significantly decreased (p < 0.04). Conclusions: The depletion of GSH, in spite of the elevated activity of GR, not only diminished the activity of GSH-depend GST and GPx, but increased LPO, carbonylation and decreased TAC. These changes could promote the structural and functional alterations in the thoracic aorta of MFS patients.

The spectrum of syndromes and manifestations in individuals screened for suspected Marfan Syndrome

2009 ◽  
Vol 56 (S 01) ◽  
Author(s):  
AMJ Bernhardt ◽  
M Rybczynski ◽  
C Habermann ◽  
C Detter ◽  
M Arslan-Kirchner ◽  
...  
Keyword(s):  
Marfan Syndrome

Functional remodeling of floppy mitral valve in children with Marfan syndrome

2012 ◽  
Vol 60 (S 01) ◽  
Author(s):  
EM Delmo Walter ◽  
H Siniawski ◽  
T Komoda ◽  
R Hetzer
Keyword(s):  
Mitral Valve ◽  
Marfan Syndrome ◽  
Functional Remodeling
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