scholarly journals Role of PUF60 gene in Verheij syndrome: a case report of the first Chinese Han patient with a de novo pathogenic variant and review of the literature

2018 ◽  
Vol 11 (1) ◽  
Author(s):  
Qiong Xu ◽  
Chun-yang Li ◽  
Yi Wang ◽  
Hui-ping Li ◽  
Bing-bing Wu ◽  
...  
2021 ◽  
pp. 1071-1079
Author(s):  
Jennifer Y. Ge ◽  
Beth Overmoyer

Inflammatory breast cancer (IBC) is a rare type of breast cancer that is associated with poor outcomes compared with non-IBC. Overexpression of HER2 is enriched in IBC, and those with HER2-positive disease have a relatively favorable prognosis, with improved survival over the last two decades driven by the advent of novel targeted therapies. Here, we present two patients who have survived for over 10 years after being diagnosed with de novo metastatic HER2-positive IBC. We review the data for the treatments available for metastatic HER2-positive IBC and the evolving treatment recommendations for this disease.


2014 ◽  
Vol 9 (1) ◽  
pp. 227-230 ◽  
Author(s):  
GAO-YI YANG ◽  
DAN ZHAO ◽  
WEN-ZHI ZHANG ◽  
JUN MENG ◽  
JUN LI ◽  
...  

Author(s):  
Murat Sakir Eksi ◽  
Huseyin Kemal Turkoz ◽  
Emel Ece Ozcan Eksi ◽  
Akin Akakin ◽  
Zafer Orkun Toktas ◽  
...  

2021 ◽  
Author(s):  
J Sollors ◽  
B Kallinowski ◽  
T Gaiser ◽  
C Antoni ◽  
M Ebert ◽  
...  

Author(s):  
Jose F. Dominguez ◽  
Smit Shah ◽  
Eric Feldstein ◽  
Christina Ng ◽  
Boyi Li ◽  
...  

AbstractSinus pericranii (SP) are abnormal vascular connections between extracranial scalp venous channels and intracranial dural sinuses. This vascular abnormality rarely results in significant sequelae, but in select cases, it can be symptomatic. We describe the case of a 7-year-old girl with an SP who experienced intermittent visual, motor, and sensory symptoms not previously described in the literature. Her symptoms resolved after surgical treatment of the SP. We propose a mechanism for her symptoms and the rationale for the role of neurosurgical intervention along with a review of the literature.


Cases Journal ◽  
2009 ◽  
Vol 2 (1) ◽  
Author(s):  
Constantine Antonopoulos ◽  
Constantine Lilimpakis ◽  
Maria Karagianni ◽  
Dimitra Daskalopoulou ◽  
Theodoulos Kyriakou ◽  
...  

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