scholarly journals 3D Craniofacial Morphometric Analysis of Young Subjects with Marfan Syndrome: A Preliminary Report

2015 ◽  
Author(s):  
Claudia DOLCI ◽  
Valentina PUCCIARELLI ◽  
Marina CODARI ◽  
Daniele M. GIBELLI ◽  
Susan MARELLI ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Morphometric Analysis ◽  
Preliminary Report ◽  
Young Subjects

scholarly journals Tethered Cord Syndrome : Preliminary Report of Clinical Features and Morphometric Analysis on Association of Chiari Malformation Type Ⅰ

2009 ◽  
Vol 23 (2) ◽  
pp. 195-203
Author(s):  
Misao Nishikawa ◽  
Thomas H. Milhorat ◽  
Paolo A. Bolognese ◽  
Nazli B. McDonnell ◽  
Clair A. Francomano
Keyword(s):  
Clinical Features ◽  
Morphometric Analysis ◽  
Chiari Malformation ◽  
Preliminary Report ◽  
Tethered Cord ◽  
Tethered Cord Syndrome

scholarly journals Differential Diagnosis between Marfan Syndrome and Loeys–Dietz Syndrome Type 4: A Novel Chromosomal Deletion Covering TGFB2

Genes ◽  
2021 ◽  
Vol 12 (10) ◽  
pp. 1462
Author(s):  
Stefano Nistri ◽  
Rosina De Cario ◽  
Elena Sticchi ◽  
Gaia Spaziani ◽  
Matteo Della Monica ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Marfan Syndrome ◽  
Age Of Onset ◽  
Clinical Manifestations ◽  
Syndrome Type ◽  
Chromosomal Deletion ◽  
Ectopia Lentis ◽  
Left Common Iliac Artery ◽  
Young Subjects ◽  
Aneurysm Dissection

Marfan syndrome (MFS) and Loeys–Dietz syndrome type 4 (LDS4) are two hereditary connective tissue disorders. MFS displays ectopia lentis as a distinguishing, characterising feature, and thoracic aortic ectasia, aneurysm, dissection, and systemic features as manifestations overlapping with LDS4. LDS4 is characterised by the presence of hypertelorism, cleft palate and/or bifid uvula, with possible ectasia or aneurysms in other arteries. The variable age of onset of clinical manifestations makes clinical diagnosis more difficult. In this study, we report the case of a patient with Marfan syndrome diagnosed at our centre at the age of 33 on the basis of typical clinical manifestations of this syndrome. At the age of 38, the appearance of ectasia of the left common iliac artery and tortuosity of the iliac arteries suggested the presence of LDS4. Next Generation Sequencing (NGS) analysis, followed by Array-CGH, allowed the detection of a novel chromosomal deletion including the entire TGFB2 gene, confirming not only the clinical suspicion of LDS4, but also the clinical phenotype associated with the haploinsufficiency mechanism, which is, in turn, associated with the deletion of the entire gene. The same mutation was detected in the two young sons. This emblematic case confirms that we must be very careful in the differential diagnosis of these two pathologies, especially before the age of 40, and that, in young subjects suspected to be affected by MFS in particular, we must verify the diagnosis, extending genetic analysis, when necessary, to the search for chromosomal alterations. Recently, ectopia lentis has been reported in a patient with LDS4, confirming the tight overlap between the two syndromes. An accurate revision of the clinical parameters both characterising and overlapping the two pathologies is highly desirable.

Cardiovascular Involvement in Marfan Syndrome

1990 ◽  
Vol 12 (2) ◽  
pp. 46-63
Keyword(s):  
Mitral Valve ◽  
Marfan Syndrome ◽  
Aortic Root ◽  
Older Patients ◽  
Aortic Insufficiency ◽  
Mitral Insufficiency ◽  
Cardiovascular Involvement ◽  
Mitral Prolapse ◽  
Aortic Root Dilatation ◽  
Young Subjects

Mitral valve problems and aortic root dilatation are nearly universal in patients with Marfan syndrome. Using echocardiography, Pan et al demonstrated mitral prolapse in 12 of 12 and aortic root dilatation in 10 of 12 patients with Marfan syndrome. These lesions are also present in over one fourth of the patients' first degree relatives. Geva et al found echocardiographic features of mitral prolapse in 25 of 25 patients with Manfan syndrome, and aortic root dilatation in 20(80%). The studies by Geva et al and by Pyertiz and Wappel demonstrate that mitral valve dysfunction and aortic root dilatation are progressive. Morbidity and mortality are more likely to be due to mitral insufficiency in young subjects and to aortic dissection or aortic insufficiency in older patients.

Progress report on 21-cm observations at low latitude between longitudes (l 11) 0° and 66°

1967 ◽  
Vol 31 ◽  
pp. 177-179
Author(s):  
W. W. Shane
Keyword(s):  
Preliminary Report ◽  
Progress Report ◽  
Galactic Centre ◽  
Low Latitude ◽  
The Third ◽  
Introductory Lecture ◽  
Centre Region

In the course of several 21-cm observing programmes being carried out by the Leiden Observatory with the 25-meter telescope at Dwingeloo, a fairly complete, though inhomogeneous, survey of the regionl11= 0° to 66° at low galactic latitudes is becoming available. The essential data on this survey are presented in Table 1. Oort (1967) has given a preliminary report on the first and third investigations. The third is discussed briefly by Kerr in his introductory lecture on the galactic centre region (Paper 42). Burton (1966) has published provisional results of the fifth investigation, and I have discussed the sixth in Paper 19. All of the observations listed in the table have been completed, but we plan to extend investigation 3 to a much finer grid of positions.

Preliminary Report of a Comparative Study of Seminiferous Tubular Epithelium from Rats Flown on Cosmos 1887 and SL3

1988 ◽  
Vol 46 ◽  
pp. 276-277
Author(s):  
Walter J. Sapp ◽  
D.E. Philpott ◽  
C.S. Williams ◽  
K. Kato ◽  
J. Stevenson ◽  
...  
Keyword(s):  
Space Flight ◽  
Physiological Response ◽  
Preliminary Report ◽  
Complete Recovery ◽  
Environmental Constraints ◽  
Tubular Epithelium ◽  
Testicular Weight ◽  
Testicular Morphology ◽  
Normal Offspring ◽  
Rats And Mice

Space flight, with its unique environmental constraints such as immobilization, decreased and increased pressures, and radiation, is known to affect testicular morphology and spermatogenesis. Selye, summarized the manifestations of physiological response to nonspecific stress and he pointed out that atrophy of the gonads always occurred. Reports of data collected from two dogs flown in space for 22 days (Cosmos 110) indicate that there was an increase of 30 to 70% atypical spermatozoa when compared to ground based controls. Seventy-five days after the flight the abnormalities had decreased to the high normal value of 30% and mating of these dogs after this period produced normal offspring, suggesting complete recovery. Effects of immobilization and increased gravity were investigated by spinning rats and mice at 2x g for 8-9 weeks. A decrease in testicular weight was noted in spun animals when compared to controls. Immobilization has been show to cause arrest of spermatogenesis in Macaca meminstrins.

Sign in / Sign up

Export Citation Format

Share Document