Genome-wide signatures of complex introgression and adaptive evolution in the big cats. [PDF]
, 2017 The great cats of the genus Panthera comprise a recent radiation whose evolutionary history is poorly understood. Their rapid diversification poses challenges to resolving their phylogeny while offering opportunities to investigate the historical ...
Antunes, Agostinho +32 more
core +5 more sources
Left atrial myxoma in a patient with hypertrophic obstructive cardiomyopathy
Journal of Clinical and Preventive Cardiology, 2022 Hypertrophic cardiomyopathy and left atrial myxoma are important cardiac causes of syncope. We present an extremely rare combination of these two diseases in a middle-aged man with syncope. Transthoracic echocardiographic images show the typical features
Jayaprasad Narayanapillai +1 more
doaj +1 more source
LEOPARD syndrome: a case report and literature review [PDF]
Clin Med (Lond), 2019 A 36-year-old male presented to the dermatology department with multiple pigmented macular lesions on his skin present for most of his life. Multiple freckles were noted on non-light exposed areas, mainly on his trunk; light exposed areas such as his ...
Moatamedi M, Derakhshan M.
europepmc +2 more sources
First Case of Systemic Coronavirus Infection in a Domestic Ferret (Mustela putorius furo) in Peru. [PDF]
, 2015 A domestic ferret from Lima, Peru, died after ten days of non-specific clinical signs. Based on pathology, immunohistochemistry and molecular analysis, ferret systemic coronavirus (FRSCV)-associated disease was diagnosed for the first time in South ...
Gonzales-Viera, O +5 more
core +1 more source
PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome [PDF]
, 2003 Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomalies/mental retardation syndrome characterized by congenital heart defects, characteristic facial appearance, short stature, ectodermal abnormalities and mental retardation.
AE Fryer +26 more
core +2 more sources
Anomalous Origin of the Left Main Artery from Right Coronary Sinus with a Prepulmonic Course
Journal of the Belgian Society of Radiology, 2015 A 32 year old female patient presented to the cardiology clinic with an atypical chest pain. Her history revealed no other condition than Leopard syndrome which was diagnosed on her birth.
Hatice Kaplanoglu +4 more
doaj +1 more source
Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genes [PDF]
, 2016 Background: Congenital dilatation of the bile-duct (CDD) is a rare, mostly sporadic, disorder that results in bile retention with severe associated complications. CDD affects mainly Asians.
Campbell, Desmond +12 more
core +1 more source
Cardiac Myxoma in a Patient With Hypertrophic Cardiomyopathy
JACC: Case Reports, 2020 We report a rare case of concomitant hypertrophic cardiomyopathy and cardiac myxoma without LEOPARD syndrome. Additionally, 6 similar cases were systemically reviewed, and the characteristics of this first-ever studied patient group were summarized ...
Weng-Tein Gi, MD, MSc +9 more
doaj +1 more source
G-Protein coupled receptor signalling in pluripotent stem cell-derived cardiovascular cells: Implications for disease modelling [PDF]
, 2015 Human pluripotent stem cell derivatives show promise as an in vitro platform to study a range of human cardiovascular diseases. A better understanding of the biology of stem cells and their cardiovascular derivatives will help to understand the strengths
Dolatshad, NF +4 more
core +1 more source
Syndromic Hearing Loss in Association with -Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome [PDF]
Clinical and Experimental Otorhinolaryngology, 2013 Hearing loss (HL) is one of the most frequent clinical manifestations of patients who suffer with multi-systemic genetic disorders. HL in association with other physical stigmata is referred to as a syndromic form of HL.
Ho-Suk Chu +7 more
doaj +1 more source