Prenatal diagnosis of trisomy 20 by chorionic villus sampling (CVS): a case report with long-term outcome

2001 ◽  
Vol 21 (13) ◽  
pp. 1111-1113 ◽  
Author(s):  
Nancy Steinberg Warren ◽  
Shirley Soukup ◽  
Jennifer L. King ◽  
Peter St. J. Dignan
2008 ◽  
Vol 28 (4) ◽  
pp. 343-346 ◽  
Author(s):  
M. J. Canto ◽  
S. Cano ◽  
J. Palau ◽  
F. Ojeda

2019 ◽  
Vol 29 (4) ◽  
pp. 528-530
Author(s):  
Ellen S. I. Vanhie ◽  
Ad J. J. C. Bogers ◽  
Willem A. Helbing

AbstractTricuspid valvectomy is a rare surgical intervention, and knowledge regarding long-term outcome in children is lacking. We report a favourable outcome 11 years after tricuspid valvectomy in early infancy without subsequent surgery or other cardiac interventions. Specific criteria for timing of re-intervention are lacking. Application of adult tricuspid and pulmonary regurgitation recommendations is helpful but has limitations.


2017 ◽  
Vol 56 (3) ◽  
pp. 638-642 ◽  
Author(s):  
Ilias Bisbinas ◽  
Zacharoula Karabouta ◽  
Vasileios Lampridis ◽  
Dimitrios Georgiannos ◽  
Athanasios Badekas

2021 ◽  
Vol 9 (19) ◽  
pp. 5252-5258
Author(s):  
Zi-Xuan Zhuang ◽  
Ming-Tian Wei ◽  
Xu-Yang Yang ◽  
Yang Zhang ◽  
Wen Zhuang ◽  
...  

2012 ◽  
Vol 40 (S1) ◽  
pp. 53-53
Author(s):  
E. Passchyn ◽  
A. Hindryckx ◽  
L. De Catte ◽  
J. A. Deprest ◽  
E. Levtchenko ◽  
...  

Surgery ◽  
1999 ◽  
Vol 125 (1) ◽  
pp. 117-120 ◽  
Author(s):  
Yih-Huei Uen ◽  
An-I Liang ◽  
Hao-Hsien Lee ◽  
Yun-Hsi Hsu

2014 ◽  
Vol 8 (1) ◽  
Author(s):  
Kim-Phung Nguyen ◽  
Veronica Zotos ◽  
Eddy C Hsueh

2020 ◽  
Author(s):  
Francesco Martino ◽  
Alessandra Magenta ◽  
Maria Letizia Troccoli ◽  
Eliana Martino ◽  
Concetta Torromeo ◽  
...  

Abstract Background: Transcobalamin deficiency is a rare autosomal recessive inborn error of cobalamin transport (prevalence: <1/1000000) which clinically manifests in early infancy. Case presentation:We describe the case of a 30 year old woman who at the age of 30 days presented with the classical clinical and laboratory signs of an inborn error of vitamin B12 metabolism. Family history revealed a sister who died at the age of 3 months with a similar clinical syndrome and with pancytopenia. She was started on empirical intramuscular (IM) cobalamin supplements (injections of hydroxocobalamin 1 mg/day for 1 week and then 1 mg twice a week) and several transfusions of washed and concentrated red blood cells.With these treatments a clear improvement in symptoms was observed, with the disappearance of vomiting, diarrhea and normalization of the full blood count. At 8 years of age injections were stopped for 3 months causing the reappearance of megaloblastic anemia. IM hydroxocobalamin was then restarted sine die. The definitive diagnosis could only be established at 29 years of age when a genetic evaluation revealed the homozygous c.1115_1116delCA mutation of TCN2 gene (p.Q373GfsX38).Currently she is a 30-year old healthy lady taking 1 mg of IM hydroxocobalamin once a week.Conclusions: Our case report highlights that early detection of TC deficiency and early initiation of aggressive IM treatment is likely associated with disease control and an overall favorable outcome.


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