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Background Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from a deficiency in alpha-galactosidase A. The major causes of death due to cardiac complications include life-threatening arrhythmias. In addition, life-threatening arrhythmias may be related to myocardial fibrosis assessed by late gadolinium enhancement (LGE). Case summary A 43-year-old man with sinus bradycardia and left ventricular hypertrophy was referred to our cardiology department. Family history includes unexplained hypertrophy and sick sinus syndrome in mother. Additionally, his plasma alpha-galactosidase A activity was low. He was subsequently diagnosed with FD. Enzyme replacement therapy using 1.0 mg/kg agalsidase-β was initiated. During the fifth administration, he developed ventricular fibrillation (VF). Electrocardiography conducted immediately before VF revealed ST elevation in the inferior leads with reciprocated ST depression. Cardiac magnetic resonance imaging showed no LGE in the myocardium. Coronary angiography showed no organic stenosis; moreover, coronary spasms were induced by an intracoronary acetylcholine injection. Ventricular fibrillation was not observed as the patient received calcium antagonists. Discussion This report suggests that vasospastic angina pectoris is associated with life-threatening arrhythmias in patient with FD without LGE.

CD133 is a transmembranous protein that mainly localises to the plasma membrane in haematopoietic and neural stem cells as well as cancer stem cells. Although CD133 also localises to the cytoplasm, the mechanism of action and function of cytoplasmic CD133 currently remain unknown. We herein demonstrated that when Src family kinase activity is weak, CD133 interacts with HDAC6 and is transported to the pericentrosomal region after internalization and endosome formation via the dynein-based traffic system. Pericentrosomal CD133 is then recycled to the plasma membrane via recycling endosomes. At the pericentrosomal region, endosomal CD133 captures GABARAP, an initiator of autophagy, and inhibits GABARAP-mediated ULK1 activation and the subsequent initiation of autophagy. Furthermore, pericentrosomal CD133 suppresses cell differentiation, such as primary cilium formation and neurite outgrowth, by inhibiting autophagy. Thus, the present results provide evidence to suggest that pericentrosomal CD133 has the unique property of maintaining the undifferentiated status of cells by inhibiting autophagy.

Background Anderson–Fabry disease (AFD) is an X-linked lysosomal storage disorder resulting from a mutation of alpha-galactosidase A gene (GLA), causing deficiency in alpha-galactosidase activity. The enzyme deficit can lead to storage of globotriaosylceramide in various organs including heart. Studies suggest that vasospastic angina (VSA) is associated with AFD. Case summary This clinical case series aimed to present two female patients with AFD, including progressive cardiac involvement: a 50-year-old woman (patient number 1) and a 39-year-old woman (patient number 2) who are siblings with a male AFD patient harbouring p. Arg342Glu missense variant in alpha-galactosidase A gene (GLA), who suffered VSA and subsequent ventricular fibrillation. Enzymatic tests and genetic analysis confirmed AFD in both female patients and histological tests revealed globotriaosylceramide deposits in their hearts. In patient number 1, a 12-lead electrocardiography and transthoracic echocardiography revealed cardiac hypertrophy. Coronary angiography revealed no organic coronary artery stenosis and vasospasms was induced by spasm provocation test. In patient number 2, no signs of cardiac hypertrophy were found, and coronary arteries had no organic stenosis with negative spasm provocation test. Both patients received enalapril therapy and enzyme replacement therapy (ERT). Discussion Different phenotype of AFD was occurred even with the same genetic variant in female heterozygote patients. The duration of exposing accumulation of Gb3 might affect cardiac hypertrophy and vasospasms. Coronary angiography with acetylcholine provocation test should be considered in female AFD patient, especially in case with cardiac hypertrophy.

In an attempt to enhance the gas barrier enhancement of plastic containers such as poly(ethylene terephthalate) bottles, a novel method was found using a hot wire CVD technique, where tantalum wire is heated and exposed to a gas flow of vinyl silane. The resultant SiOC thin film was confirmed to characteristically contain Si-Si bonds in its surface and demonstrate a remarkably and highly practical decrease of the permeation of various gas through poly(ethylene terephthalate) bottles.

We investigated the origin of strong magnetic anisotropy energy (MAE) in L10-type ordered FeNi phase by angular-dependent magnetic circular dichroism. Our findings showed that the orbital magnetic moment of Fe has a significant angular dependence that exhibits a maximum value at the [001] direction corresponding perpendicular to the plane. The calculated uniaxial anisotropy energy when considering spin–orbit (SO) interaction shows quantitatively good agreement with the volume MAE. We concluded that the orbital anisotropy in 3d Fe electrons results in the strong MAE in L10-FeNi and ascribe this to the spin–orbit interaction via structural ordering.