Clinical features and signaling effects of RET D631Y variant multiple endocrine neoplasia type 2 (MEN2)

Background/Aims@#Germline mutations of the rearranged during transfection (RET) gene cause multiple endocrine neoplasia type 2 (MEN2). About 85% of RET mutations in MEN2 occur in codon Cys634. The RET D631Y mutation has recently been discovered, and we have studied its molecular expression and clinical consequences. @*Methods@#We analyzed the clinical characteristics of a total of 34 D631Y variant MEN2 individuals from seven families. We also constructed wild-type and mutant C630Y, D631Y, and C634R/W expression vectors and investigated their effects on signaling pathways and ability to correct the phenotypes of RET mutant cells. @*Results@#The median ages at diagnosis of pheochromocytoma and medullary thyroid carcinoma (MTC) were higher in patients with RET D631Y variant MEN2 than in those with the C634R/W variant (49:53.5 years vs. 33.5:27 years, respectively), and the penetration of the D631Y mutation with respect to MTC was lower than that of the C634R/W mutation (32.3% vs. 90%). The effects of the mutant vectors on phosphorylation of RET signaling molecules and focus formation were significantly different from those of wild type, but there were no significant differences between the mutants. D631Y scored significantly higher for chemotaxis and wound healing than C630Y, but lower than C634R and C634W. @*Conclusions@#We suggest that the tumorigenic potential conferred by the D631Y mutation is lower than that conferred by the C634R/W mutation, but higher than that conferred by C630Y. Thus, the risk level of the RET D631Y variant appears to be higher than that of C630Y and lower than that of C634R/W.

Implantation of a permanent pacemaker through the coronary sinus in a patient who underwent mechanical valve replacement for infective endocarditis with a complete atrioventricular block / 영남의대학술지

A 52-year-old man was referred to our hospital due to fever and myalgia that occurred 2 weeks earlier. He showed a complete atrioventricular block on his electrocardiogram, and his vital signs were unstable. On his transthoracic echocardiograph, the 1.5 cm vegetation in the aortic valve with severe aortic regurgitation suggested infective endocarditis. His transesophageal enchocardiograph showed abscess in his mitral-aortic intervalvular fibrosa and vegetation was suspected on his anterior mitral valve leaflet. The patient underwent an emergent operation for valve replacement with temporary epicardial pacing. Intraoperatively, the septal leaflet of his tricuspid valve was injured during the debridement of the abscess pocket that was extended to the membranous septum. The aortic, mitral, and tricuspid mechanical valves were replaced with annular reconstruction without complications. After 14 days of intravenous antibiotics, we successfully changed the epicardial pacemaker into a transvenous DDD-type permanent pacemaker by placing a left ventricular lead via the coronary sinus and an atrial lead in the right atrium appendage. The patient was discharged in a tolerable state and was examined uneventfully in our hospital's outpatient clinic for 8 months.

A Single Coronary Artery: Right Coronary Artery Originating From the Distal Left Circumflex Artery / 대한내과학회지

A single coronary artery (SCA) is a rare congenital anomaly, which is often associated with myocardial ischemia. We report a SCA consisting of an anomalous right coronary artery originating from the distal left circumflex artery diagnosed by coronary angiography and multidetector computed tomography angiography.

Aeromonas hydrophila Myonecrosis in an Immunocompetent Patient / 감염과화학요법

Aeromonas hydrophila is a facultative anaerobic Gram negative bacillus. It usually thrives in fresh and brackish water and primarily causes gastroenteritis in humans. Rarely aeromonads have been associated with extra-intestinal infections, such as skin and soft infection, meningitis, epidural abscess, endocarditis and pneumonia in immunocompromised hosts. Here we report Aeromonas hydrophila soft tissue infection occurring in a 53-year-old Korean woman without underlying disease who was successfully treated with proper antibiotics.