Sitosterolemia Exhibiting Severe Hypercholesterolemia with Tendon Xanthomas Due to Compound Heterozygous ABCG5 Gene Mutations Treated with Ezetimibe and Alirocumab.

We herein report a rare case presenting with severe hypercholesterolemia, massive Achilles tendon xanthomas, and multi-vessel coronary artery disease. Initially, the patient was misdiagnosed with familial hypercholesterolemia. However, a genetic analysis using our custom sequencing panel covering genes associated with Mendelian lipid disorders revealed him to have a genetic basis of sitosterolemia with compound heterozygous mutations in the adenosine triphosphate binding cassette subfamily G5 (ABCG5) gene.

An Acute Adverse Reaction with ST Elevation Induced by Magnetic Resonance Contrast Media: Kounis Syndrome.

A 78-year-old man with mild coronary arteriosclerosis on coronary CT angiography underwent MRI of the prostate with the administration of Gadolinium-based contrast agent (GBCA) (gadopentetate dimeglumine). He developed acute coronary syndrome immediately after the intravenous injection of GBCA, and recovered after the administration of nitroglycerine, atropine sulfate, and hydrocortisone. He was discharged on the ninth day of hospitalization without recurrent chest symptoms.

Differential gene expression of adrenomedullin receptors in pressure- and volume-overloaded heart--role of angiotensin II.

Left ventricular (LV) adrenomedullin (AM) gene expression differs between pressure overload (POL) and volume overload (VOL) and angiotensin II could be a critical stimulator of AM gene expression in POL and VOL models. Calcitonin receptor-like receptor (CRLR) co-expressed with receptor activity modifying protein 2 (RAMP2) or RAMP3 functions as an AM receptor. Levels of CRLR, RAMP2 and RAMP3 mRNA that were significantly increased within 24 h returned to the basal level at 5 days after the imposition of POL in the present study.

Practical preparation of N-(1-Alkynyl)sulfonamides and their remote diastereoselective addition to aldehydes via titanation.

Aliphatic and aromatic sulfonamides were alkynylated with 1-bromo-1-alkynes in the catalytic presence of CuI to give N-(1-alkynyl)sulfonamides in good to excellent yields. The acetylene-titanium complexes generated from N-(1-alkynyl)benzosultams underwent diastereoselective addition to aldehydes. [reaction: see text]

Concise and stereoselective synthesis of enamides and dienamides by a titanium-mediated coupling method.

Ynamide-titanium alkoxide complexes underwent hydrolysis or addition to aldehydes and ketones to give single, stereodefined di- or trisubstituted enamides in good yields. Alternatively, coupling of a variety of alkyne-titanium alkoxide complexes with terminal ynamides generated amino-substituted titanacyclopentadienes, hydrolysis or aldehyde addition of which afforded stereodefined dienamides. [reaction--see text]

Rapid increase in cardiac adrenomedullin gene expression caused by acute pressure overload: effect of the renin-angiotensin system on gene expression.

To determine whether acute pressure overload (POL) can stimulate adrenomedullin (AM) production, the response of ventricular AM gene expression and plasma AM concentration to aortic banding was investigated in the rat. Furthermore, any link between AM expression and the renin-angiotensin system (RAS) enhanced by acute POL was examined using: a Ca channel blocker (manidipine), an angiotensin II type 1 receptor antagonist (candesartan), and an angiotensin-converting enzyme inhibitor (quinapril). Rats with acute POL produced by suprarenal aortic banding were studied 1, 5 and 14 days after surgery.