De novo p.G696S mutation in COL4A1 causes intracranial calcification and late-onset cerebral hemorrhage: A case report and review of the literature

2020 ◽  
Vol 63 (4) ◽  
pp. 103825
Author(s):  
Keishiro Kinoshita ◽  
Yoshito Ishizaki ◽  
Hiroyuki Yamamoto ◽  
Motoshi Sonoda ◽  
Kousuke Yonemoto ◽  
...  
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.


Author(s):  
Jeny Jacob ◽  
Rajesh Venkataram ◽  
Nandakishore Baikunje ◽  
Rashmi Soori

AbstractNarcolepsy, a sleep disorder, has its onset in childhood and early adulthood but rarely in older adults. This case report focuses on a man in his late fifties who was noticed to have excessive daytime sleepiness during his stay in our hospital for an unrelated medical ailment. He was further evaluated with overnight polysomnography and next day multiple sleep latency test which confirmed the diagnosis of narcolepsy.


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 ◽  
...  

2014 ◽  
Vol 44 (2) ◽  
pp. 241-245 ◽  
Author(s):  
Oren Gordon ◽  
Yotam Almagor ◽  
Dvora Fridler ◽  
Asaf Mandel ◽  
Hiba Qutteineh ◽  
...  

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