A case report of odonto-hypophosphatasia with a novel variant in the ALPL gene.

OBJECTIVES: Hypophosphatasia (HPP) is a rare skeletal dysplasia caused by variants in the alkaline phosphatase (ALPL) gene. More than 400 pathogenic variants of the ALPL gene have been registered in the ALPL gene variant database. Here, we describe the case of a Japanese child with odonto-hypophsphatasia (odonto-HPP) and a novel ALPL variant. CASE PRESENTATION: At the age of 2 years and 1 month, he prematurely lost one deciduous tooth, with the root intact, when he fell and hit his face lightly. Three months later, he lost another adjacent deciduous tooth without incentive. His serum alkaline phosphatase (ALP) level was 72 U/L. His urine phosphoethanolamine (PEA) level was extremely high at 938 µmol/mg·Cre. The serum pyridoxal 5'-phosphaye (PLP) level was 255.9 nmol/L. Based on the clinical symptoms and laboratory findings, the patient was clinically diagnosed with odonto-HPP. Genetic analysis of the ALPL gene revealed a heterozygous variant (NM_000478.6:c.1151C>A, p.Thr384Lys). CONCLUSIONS: We report a case of odonto-HPP with a novel variant in the ALPL gene. HPP is a rare disease, and the heterozygous mutation in the ALPL gene highlights the novelty of this case.

[Stanford Type B Acute Aortic Dissection Associated with Transcatheter Aortic Valve Implantation:Report of a Case].

Transcatheter aortic valve implantation (TAVI)-related Stanford type B aortic dissection is an extremely rare but potentially fatal complication. Here, we present a case of 82-year-old man who developed acute type B aortic dissection during transfemoral TAVI. During successful TAVI procedure, dissection in the descending aorta was demonstrated by transesophageal echocardiography. Computed tomography( CT) clearly showed Stanford type B aortic dissection and an intimal tear in severely tortuous part of the descending aorta. Cause of aortic dissection was supposed to be related to the guidewire or the device that passed across affected position. The patient showed no complication associated with aortic dissection, such as rupture or malperfusion. Therefore, he was treated conservatively, and follow-up CT confirmed progressive clotting of the false lumen. Although the indication for TAVI has got broaden recently, physicians should be always aware of possible aortic dissection.

Control of the stochastic response of magnetization dynamics in spin-torque oscillator through radio-frequency magnetic fields.

Neuromorphic computing using spintronic devices, such as spin-torque oscillators (STOs), has been intensively studied for energy-efficient data processing. One of the critical issues in this application is stochasticity in magnetization dynamics, which limits the accuracy of computation. Such stochastic behavior, however, plays a key role in stochastic computing and machine learning. It is therefore important to develop methods for both suppressing and enhancing stochastic response in spintronic devices. We report on experimental investigations on control of stochastic quantity, such as the width of a distribution of transient time in magnetization dynamics in vortex-type STO. The spin-transfer effect can suppress stochasticity in transient dynamics from a non-oscillating to oscillating state, whereas an application of a radio-frequency magnetic field is effective in reducing stochasticity on the time evolution of the oscillating state.