scholarly journals Triple X syndrome in a patient with partial lipodystrophy discovered using a high-density oligonucleotide microarray: a case report

2009 ◽  
Vol 3 (1) ◽  
pp. 8867 ◽  
Author(s):  
Matthew B Lanktree ◽  
I George Fantus ◽  
Robert A Hegele
2007 ◽  
Vol 33 (5) ◽  
pp. 385-389 ◽  
Author(s):  
F. Moreau ◽  
S. Boullu-Sanchis ◽  
C. Vigouroux ◽  
C. Lucescu ◽  
O. Lascols ◽  
...  

Endocrinology ◽  
2001 ◽  
Vol 142 (11) ◽  
pp. 4777-4784 ◽  
Author(s):  
Jianzhong Xiao ◽  
Søren Gregersen ◽  
Mogens Kruhøffer ◽  
Steen B. Pedersen ◽  
Torben F. Ørntoft ◽  
...  

2005 ◽  
Vol 86 (2) ◽  
pp. 154-165 ◽  
Author(s):  
Franck Chiappini ◽  
Alain Barrier ◽  
Raphaël Saffroy ◽  
Marie-Charlotte Domart ◽  
Nicolas Dagues ◽  
...  

2004 ◽  
Vol 331 (2) ◽  
pp. 314-321 ◽  
Author(s):  
Catherine I Dumur ◽  
Carleton T Garrett ◽  
Kellie J Archer ◽  
Suhail Nasim ◽  
David S Wilkinson ◽  
...  

2021 ◽  
Vol 5 (6) ◽  
Author(s):  
Mustapha El Hamriti ◽  
Henrik Fox ◽  
Philipp Sommer ◽  
Sebastian V Rojas

Abstract Background Despite substantial technical improvements in long-term mechanical circulatory support, ventricular tachycardia (VT) remains a major challenge in left ventricular assist device (LVAD) patients. Recurrent VTs in LVAD patients are not only associated with limited quality of life, but also increased mortality. Although LVAD therapy improves VT tolerance of the left ventricle, haemodynamical deterioration of the right ventricle is the limiting factor in these patients. Case summary  We present a case report of a hybrid epicardial VT ablation of incessant VTs in a 53-year-old man with advanced heart failure and St.p. LVAD implantation. With this unique clinical case report, we describe an epicardial VT ablation using secondary surgical open-heart access in a patient with therapy-refractory VTs combing left-sided minithoracotomy with high-density (HD) mapping and catheter ablation. Discussion  To the best of our knowledge, the presented approach is the first interdisciplinary case of epicardial VT ablation using secondary surgical open-heart access in an LVAD patient with therapy-refractory VTs. By combing left-sided minithoracotomy with HD mapping and catheter ablation, we could to demonstrate that even in these complex patients epicardial VT ablations can be performed safely and improve quality of life of LVAD patients with recurrent implantable cardioverter-defibrillator shock therapies.


SLEEP ◽  
2020 ◽  
Vol 43 (Supplement_1) ◽  
pp. A483-A483
Author(s):  
A Castelnovo ◽  
N Amato ◽  
S Riccardi ◽  
M Pereno ◽  
S Miano ◽  
...  

Abstract Introduction Sleepwalking belongs to a family of disorders (Disorders of Arousal - DOA) that are thought to derive from incomplete arousals out of Non Rapid Eye Movement (NREM) sleep. At yet, our knowledge about the specific neural dynamics occurring during clinical episodes is limited and relies on one SPECT case study, four stereo-EEG case reports/series and one single high-density electro-encephalography (hdEEG) case report. We herein describe a single case captured by hdEEG. Report of Case We collected two consecutive sleep recordings (using a 256-channel hdEEG coupled with standard video-polysomnography) of a non-medicated, otherwise healthy, 13-year-old male, with a history of recurrent daily sleepwalking episodes. We visually identified 17 behavioral events during sleep stage 3 and divided them into two groups: clear clinical episodes (n = 7) and simple movements associated with burst of delta waves (n = 10). Source power topography in the delta range (1-4 Hz) was computed using LORETA. Source images during selected episodes were compared to 30 second-windows of baseline stage 3 sleep. Comparisons were performed using statistical non-parametric mapping with supra-threshold cluster tests. Events were associated with an increase of delta power over the right frontopolar prefrontal cortex (rPFC) / Broadman area 10 (BA10) at their onset. This finding was clearly observable even when considering only clear-cut events, followed by the involvement of the right dorsolateral and medial prefrontal cortex / BA9 and of the left superior temporal gyrus/ BA 22. Conclusion We were able to replicate a recently published case report by our group, where we highlighted the putative role of rPFC and PFC and prefronto-temporal circuit in DOA episodes. Intriguingly, we observed a lateralization of this effect, with a prominent right frontal involvement. Novel research has shown a physiological asymmetry in the generation of large slow waves between the two hemispheres. An increased right-left unbalance might prime behavioral episodes in DOA patients.


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