Recurrent prenatal PIEZO1-RELATED lymphatic dysplasia: Expanding molecular and ultrasound findings

Author(s):  
Gioia Mastromoro ◽  
Daniele Guadagnolo ◽  
Antonella Giancotti ◽  
Maria Grazia Di Gregorio ◽  
Enrica Marchionni ◽  
...  
2013 ◽  
Vol 2013 ◽  
pp. 1-4
Author(s):  
Paul Singh ◽  
Matthew Connell

Introduction. Primary congenital lymphedema is a rare disorder associated with insufficient development of lymphatic vessels. Usually most patients present with lower extremity edema seen sonographically. Rarely primary congenital lymphedema may be associated with severe lymphatic dysfunction resulting in hydrops fetalis.Case. A 27-year-old primigravida with a family history of leg swelling throughout multiple generations was diagnosed early in the third trimester with hydrops fetalis. Delivery was undertaken at 32 weeks for nonreassuring fetal status and the infant expired at approximately 45 minutes of life. Primary congenital lymphedema was confirmed via molecular testing of the vascular endothelial growth factor receptor-3 gene.Discussion. The diagnosis of PCL is suspected prenatally when ultrasound findings coincide with a positive family history of chronic lower limb lymphedema. Isolated PCL is rarely associated with significant complications. Rarely, however, widespread lymphatic dysplasia may occur, possibly resulting in nonimmune hydrops fetalis.


2015 ◽  
Vol 21 ◽  
pp. 200
Author(s):  
Adriana Herrera ◽  
Claudia Zapata ◽  
Parul Jayakar ◽  
Aparna Rajadhyaksha ◽  
Ricardo Restrepo ◽  
...  

Author(s):  
Yale Tung Chen ◽  
Milagros Martí de Gracia ◽  
Maria Luz Parra Gordo ◽  
Silvia Ossaba Velez ◽  
Sergio Agudo-Fernández

Choonpa Igaku ◽  
2013 ◽  
Vol 40 (2) ◽  
pp. 167-174 ◽  
Author(s):  
Yukio MITSUZUKA ◽  
Shinsaku KANAZAWA ◽  
Hideaki OGATA ◽  
Kenichi MARUYAMA ◽  
Tsuneyoshi YAKUWA ◽  
...  

2021 ◽  
Vol 14 (4) ◽  
pp. e39-e41
Author(s):  
Masashi Yokoi ◽  
Hiroshi Fujita ◽  
Tatsuhito Ogawa ◽  
Tsuyoshi Ito ◽  
Yoshihiro Seo ◽  
...  

Author(s):  
Yasmine Mohamed Elsaeid ◽  
Dina Elmetwally ◽  
Salwa Mohamed Eteba

Abstract Background This prospective study included 65 female patients with primary breast cancer. Ultrasound was performed for all patients. Ultrasound findings were analyzed according to the ACR BI-RADS lexicon 5th edition and correlated with tumor type, grade, and biological markers (ER, PR, HER-2/neu, and Ki67). The purpose of this study is to assess the association between ultrasound findings, tumor type, grade, and the state of biological markers in patients with breast cancer. Results Irregular shape and speculated margins are more frequently associated with invasive duct carcinoma than DCIS (p value < 0.001). There were no association between the ultrasound findings (shape, margin, orientation, echopattern, and posterior features) and the tumor grade (p value 1.0, 0, 0.544, 1.0, and 1.0), respectively. Irregular shape is more frequently seen in ER and PR positive breast cancers (p value = 0.036 and 0.026, respectively). Non-circumscribed margins were frequently seen in PR positive breast cancers (p value = 0.068). No statistically significant difference between US descriptors and HER-2/neu-positive cases. Conclusion Irregularly shaped tumors with speculated margins are frequently seen in invasive duct carcinoma and also more frequently seen in ER-, PR-, and Ki67-positive cases. No relation between ultrasound descriptors and the tumor grade of invasive duct carcinoma. Also, there were no relation between ultrasound descriptors and the state of HER-2/neu.


2016 ◽  
Vol 83 (5) ◽  
pp. AB353
Author(s):  
Turki Alkully ◽  
Umar Darr ◽  
Anas W. Renno ◽  
Zubair Khan ◽  
Omar Oraibi ◽  
...  

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