Faculty Opinions recommendation of Mesenchymal activin-A overcomes defective human trisomy 21 trophoblast fusion.

2012 ◽  
Author(s):  
John Aplin
Keyword(s):  
Trisomy 21 ◽  
Activin A

scholarly journals Gonadotropins, Prolactin, Inhibin A, Inhibin B, and Activin A in Human Fetal Serum from Midpregnancy and Term Pregnancy

2000 ◽  
Vol 85 (1) ◽  
pp. 270-274 ◽  
Author(s):  
F. Debieve ◽  
S. Beerlandt ◽  
C. Hubinont ◽  
K. Thomas
Keyword(s):  
Growth Retardation ◽  
Trisomy 21 ◽  
Intrauterine Growth Retardation ◽  
Maternal Blood ◽  
Activin A ◽  
Inhibin B ◽  
Blood Contamination ◽  
Inhibin A ◽  
Intrauterine Growth ◽  
Fetal Serum

Using specific enzyme-linked immunosorbent assays we measured inhibin A, inhibin B, and activin A in relation to LH, FSH, and PRL in normal human fetal midpregnancy serum obtained by in utero cord venipuncture (n = 25) and compared these results to those in fetal serum from term pregnancies (n = 23). We also tested serum from fetuses with intrauterine growth retardation (n = 6) or trisomy 21 (n = 6). We found no measurable inhibin A, except in three midpregnancy males (3 of 14). Inhibin B, however, was detected in midpregnancy male fetuses (167 ± 67 pg/mL) and was higher than that in females (16 ± 12 pg/mL). It was present in male term fetuses (125 ± 32 pg/mL), but not in females. The activin A levels did not significantly differ between term and midpregnancy males and females. LH and FSH were detected in midpregnancy male fetuses (4.4 ± 3.3 and 0.77 ± 0.49 mIU/mL, respectively), with higher levels in females (33.0 ± 23.2 and 54.4 ± 27.7 mIU/mL, respectively), and were suppressed at term. PRL did not exhibit sexual difference, but showed a higher level at term (322.4 ± 113.8 ng/mL) than at midpregnancy (33.0 ± 26.1 ng/mL). Comparison of inhibin B with FSH levels showed correlation coefficients of −0.565 at midpregnancy vs. +0.445 at term. Serum from fetuses with intrauterine growth retardation or trisomy 21 did not show any different hormonal profiles. These data suggest that inhibin B is probably an additional factor in FSH inhibition at midpregnancy, whereas activin A is not associated with any change in the different studied populations. We speculate that inhibin A could be a method to detect maternal blood contamination in cord venipuncture.

Maternal serum levels of total activin-A in first-trimester trisomy 21 pregnancies

10.1002/pd.53 ◽  
2001 ◽  
Vol 21 (4) ◽  
pp. 270-273 ◽  
Author(s):  
Kevin Spencer ◽  
Adolfo W Liao ◽  
Hariklea Skentou ◽  
Charas YT Ong ◽  
Kypros H Nicolaides
Keyword(s):  
Trisomy 21 ◽  
Serum Levels ◽  
First Trimester ◽  
Activin A ◽  
Maternal Serum

scholarly journals Mesenchymal Activin-A Overcomes Defective Human Trisomy 21 Trophoblast Fusion

Endocrinology ◽  
2011 ◽  
Vol 152 (12) ◽  
pp. 5017-5028 ◽  
Author(s):  
Pascale Gerbaud ◽  
Guillaume Pidoux ◽  
Jean Guibourdenche ◽  
Niroshani Pathirage ◽  
Jean Marc Costa ◽  
...  
Keyword(s):  
Trisomy 21 ◽  
Activin A

Fibrodysplasia Ossificans Progressiva – FOP

2018 ◽  
Vol 27 (04) ◽  
pp. 215-221
Author(s):  
R. Morhart ◽  
O. Semler ◽  
L. Seefried
Keyword(s):  
Hallux Valgus ◽  
Activin A ◽  
Fibrodysplasia Ossificans Progressiva ◽  
Intramuskuläre Injektionen ◽  
Sind Eine

ZusammenfassungBei der Fibrodysplasia ossificans progressiva (FOP) besteht aufgrund einer aktivierenden Mutation im Gen für den Activin A Rezeptor Typ 1 (ACVR1 / ALK2), eine Prädisposition zu heterotoper Knochenbildung in Weichgeweben, insbesondere der Muskulatur. Die Prävalenz der Erkrankung wird in einer Größenordnung von 1 pro 1–2 Mio. angegeben. Klinisch kommt es intrauterin zu Fehlbildungen, z. B. zu einem bds. Hallux valgus, der bei der überwiegenden Mehrheit der Patienten bereits bei Geburt besteht. Postnatal kommt es meist in den ersten Lebensjahren beginnend im Schulter-/ Nackenbereich episodenartig bereits nach kleineren Verletzungen zu schmerzhaften Weichteilreaktionen, sogenannten flareups die nachfolgend im Sinne einer enchondralen Ossifikation verknöchern. Die Akkumulation dieser irreversiblen Verknöcherungen im Weichgewebe bedingt eine zunehmende Einschränkung der Beweglichkeit bis hin zur kompletten Einsteifung des Körpers. Letztlich kommt es durch die fortschreitende Rigidität des Thorax zu einer respiratorischen Insuffizienz und kardialer Dekompensation.Therapeutisch steht im Vordergrund die Vermeidung von Traumata als Auslöser für die Entstehung extraossären Knochengewebes, insbesondere auch der Verzicht auf unnötige iatrogene Schädigungen durch Operationen, Biopsien und intramuskuläre Injektionen. Supportiv sind eine adäquate Hilfsmittelversorgung, psychologische Unterstützung und eine analgetische Versorgung erforderlich. Im Falle eines Traumas werden kurzfristig hochdosiert Glucocorticoide empfohlen, um das Risiko und Ausmaß der flare-ups und nachfolgender Verknöcherungen zu reduzieren. Ergänzend können NSAR hilfreich sein. Derzeit werden unterschiedliche neue Therapieansätze entwickelt. Am weitesten fortgeschritten ist dabei der Retinolsäure Rezeptor Gamma (RARg) Agonist Palovarotene, der durch Interferenz mit der ALK2 vermittelten Signalkaskade einen zentralen Punkt im Pathomechanismus der Erkrankung adressiert.

Investigating miR-125b target gene Arid3a in trisomy 21-associated leukemogenesis

2020 ◽  
Author(s):  
K Weigert ◽  
O Alejo-Valle ◽  
M Labuhn ◽  
V Amstislavskiy ◽  
S Emmrich ◽  
...  
Keyword(s):  
Trisomy 21 ◽  
Target Gene

Inhibines and Activin A are markers for low dose r-FSH – therapy

2004 ◽  
Vol 112 (S 1) ◽  
Author(s):  
R Seufert ◽  
S Wulgaris ◽  
M Schaffrath ◽  
K Pollow
Keyword(s):  
Low Dose ◽  
Activin A

‘The Stuff of Slow Constitution’: Reading Down Syndrome for Race, Disability, and the Timing that Makes Them So

Somatechnics ◽  
2016 ◽  
Vol 6 (2) ◽  
pp. 235-248 ◽  
Author(s):  
Mel Y. Chen
Keyword(s):  
Down Syndrome ◽  
Trisomy 21 ◽  
Historical Perspective ◽  
Early History ◽  
Present Moment ◽  
History Of ◽  
Living Being

In this paper I would like to bring into historical perspective the interrelation of several notions such as race and disability, which at the present moment seem to risk, especially in the fixing language of diversity, being institutionalised as orthogonal in nature to one another rather than co-constitutive. I bring these notions into historical clarity primarily through the early history of what is today known as Down Syndrome or Trisomy 21, but in 1866 was given the name ‘mongoloid idiocy’ by English physician John Langdon Down. In order to examine the complexity of these notions, I explore the idea of ‘slow’ populations in development, the idea of a material(ist) constitution of a living being, the ‘fit’ or aptness of environmental biochemistries broadly construed, and, finally, the germinal interarticulation of race and disability – an ensemble that continues to commutatively enflesh each of these notions in their turn.

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