Glycogen storage disease confined to the heart with deficient activity of cardiac phosphorylase kinase: a new type of glycogen storage disease

The case of a male infant with marked deposition of glycogen, confined to the heart, is presented. Clinically, prominent cardiomegaly had been evident from immediately after birth until the infant's death due to heart failure. There were no significant clinical manifestations in other organs, including liver and skeletal muscle, during the clinical course. Autopsy revealed abnormal deposition of normally structured glycogen in the heart, but no deposition in the liver, skeletal muscle, or other systemic organs. This unusual pattern of glycogen deposition was also confirmed by measurement of the glycogen content of each organ. This is the first report of glycogen storage disease confined to the heart. Enzymatic analysis revealed no decrease in the activities of acid maltase, amylo-1,6-glucosidase, and phosphorylase in the heart or in the liver or skeletal muscle. However, phosphorylase kinase activity was not detectable in the heart, although high activity levels were observed in the liver and skeletal muscle. In this case the inborn error of metabolism responsible for the isolated deposition of glycogen in heart muscle may have been due to a deficiency of cardiac phosphorylase kinase.     

Lack of correlation between phonetic magnetic mismatch field and plasma d-serine levels in humans

Objective

Uncovering molecular bases for auditory language processing in the human brain is a fundamental scientific challenge. The power and latency of the magnetic mismatch field (MMF) elicited by phoneme change, which are magnetoencephalographic indices of language function in its early stage of information processing, are theoretically thought to be modulated by N-methyl-d-aspartate-type glutamate receptor (NMDAR) function, but no study has yet assessed this possibility. We have thus sought to demonstrate an association between phonetic MMF power/latency and levels of plasma d-serine, an intrinsic co-agonist of glycine binding sites on NMDAR, in adults.

Association between Angiotensin-Converting Enzyme Inhibitors and Post-Stroke Aspiration Pneumonia

Background: Previous small studies conducted around 2000 suggested an association between the use of angiotensin-converting enzyme inhibitors (ACEIs) and a reduction in post-stroke aspiration pneumonia (AP) in Japan. However, it is unclear whether receiving ACEIs can reduce post-stroke AP in the current clinical environment, where stroke management has been improved. This study aimed to re-evaluate the preventive effect of ACEIs on post-stroke AP, compared with that of angiotensin II receptor blockers (ARBs). Methods: Using the Japanese Diagnosis Procedure Combination database, we identified patients who were hospitalized for stroke and developed AP during hospitalization from July 2010 to December 2016. After applying the exclusion criteria, we performed 1:1 propensity score matching between patients receiving ACEIs and those receiving ARBs after discharge. The outcomes were 14-day, 30-day, and 90-day readmission for post-stroke AP among patients with stroke who had AP during their initial hospitalization. Cox regression was performed to analyze these readmissions. Results: In total, 35,586 eligible patients were identified. Of these patients, 5846 (16%) received ACEIs. Propensity score matching created 5789 pairs. No significant difference was seen in 14-day readmission (0.7% versus 0.8%), 30-day readmission (1.3% versus 1.3%), or 90-day readmission (2.4% versus 2.6%) between the ARB and ACEI groups. The hazard ratio of the ACEI group compared with the ARB group was not significant (1.21; 95% confidence interval: 0.98-1.48). Conclusions: In this retrospective nationwide study, ACEIs could not be concluded to have a preventive effect on post-stroke AP in the current clinical environment.