scholarly journals Progressive Familial Intrahepatic Cholestasis Type 1 Associated with Cherry-Red Spots in an Infant: A First Case Report

Cureus ◽  
2020 ◽  
Author(s):  
Sarah Alzebaidi ◽  
Yara Alghamdi ◽  
Amal Alghamdi ◽  
Mohammed Hasosah ◽  
Emad Alsharef
2021 ◽  
Vol 9 (15) ◽  
pp. 3631-3636
Author(s):  
Piotr Czubkowski ◽  
Richard J Thompson ◽  
Irena Jankowska ◽  
A S Knisely ◽  
Milton Finegold ◽  
...  

2021 ◽  
Vol 19 (4) ◽  
pp. 462-467
Author(s):  
A. R. Obuhovich ◽  
◽  
N. N. Iaskevich ◽  

Jaundice is a manifestation of many diseases both benign and malignant. Genetic progress allowed to distinguish the group of unknown earlier rare cholestatic jaundices, which are resulted from gene mutations. There are no described algorithms of their diagnosis or treatment. In this article case report of the patient with benign recurrent intrahepatic cholestasis type 1 is presented. There is also literature analysis of this theme.


2017 ◽  
Vol 33 (7) ◽  
pp. 629-631
Author(s):  
Sekh Thanprasertsuk ◽  
Suwapan Pleumkanitkul ◽  
Supaporn Wacharapluesadee ◽  
Teerada Ponpinit ◽  
Thiravat Hemachudha ◽  
...  

2019 ◽  
Vol 143 (5) ◽  
pp. 481-485
Author(s):  
Eleonora Ghisoni ◽  
Laura Marandino ◽  
Pasquale Lombardi ◽  
Alessandro Bonzano ◽  
Paolo Becco ◽  
...  

Cardiovascular adverse events (CVAEs) are of considerable importance in patients with multiple myeloma (MM), given the significant prevalence of coexisting cardiovascular risk factors and the potential treatment-induced toxicity. Brugada syndrome is a rare cardiological disease responsible for arrhythmia and potentially fatal cardiac arrest. Brugada phenocopies (BrP) are clinical entities which show an identical ECG patterns, but prompt resolution after treatment of the trigger event. A 65-year-old female newly diagnosed MM patient treated with a carfilzomib-based chemotherapy developed a type 1 Brugada ECG pattern during a hospitalization course for sepsis. As fever and the septic event resolved, further ECGs showed no abnormalities and carfilzomib-based treatment could be resumed with no further CVAEs. Though fever-induced BrP is a universally known phenomenon, to our knowledge this is the first case of BrP in a patient with MM during active treatment with carfilzomib.


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