Validation of Wearable Device Consisting of a Smart Shirt with Built-In Bioelectrodes and a Wireless Transmitter for Heart Rate Monitoring in Light to Moderate Physical Work.

Real-time monitoring of heart rate is useful for monitoring workers. Wearable heart rate monitors worn on the upper body are less susceptible to artefacts caused by arm and wrist movements than popular wristband-type sensors using the photoplethysmography method. Therefore, they are considered suitable for stable and accurate measurement for various movements. In this study, we conducted an experiment to verify the accuracy of our developed and commercially available wearable heart rate monitor consisting of a smart shirt with bioelectrodes and a transmitter, assuming a real-world work environment with physical loads. An exercise protocol was designed to light to moderate intensity according to international standards because no standard exercise protocol for the validation simulating these works has been reported. This protocol includes worker-specific movements such as applying external vibration and lifting and lowering loads. In the experiment, we simultaneously measured the instantaneous heart rate with the above wearable device and a Holter monitor as a reference to evaluate mean absolute percentage error (MAPE). The MAPE was 0.92% or less for all exercise protocols conducted. This value indicates that the accuracy of the wearable device is high enough for use in real-world cases of physical load in light to moderate intensity tasks such as those in our experimental protocol. In addition, the experimental protocol and measurement data devised in this study can be used as a benchmark for other wearable heart rate monitors for use for similar purposes.

Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia.

Sitosterolemia is an autosomal recessive disorder that affects lipid metabolism and is characterized by elevated serum plant sterol levels, xanthomas, and accelerated atherosclerosis. In this study, we report a novel nonsense single-nucleotide variant, c.225G > A (p.Trp75*), and an East Asian population-specific missense multiple-nucleotide variant, c.1256_1257delTCinsAA (p.Ile419Lys), in the ABCG8 gene in a compound heterozygous state observed in a Japanese girl with sitosterolemia.

Association Between Invisible Basal Ganglia and ZNF335 Mutations: A Case Report.

ZNF335 was first reported in 2012 as a causative gene for microcephaly. Because only 1 consanguineous pedigree has ever been reported, the key clinical features associated with ZNF335 mutations remain unknown. In this article, we describe another family harboring ZNF335 mutations. The female proband was the first child of nonconsanguineous Japanese parents. At birth, microcephaly was absent; her head circumference was 32.0 cm (-0.6 SD). At 3 months, microcephaly was noted, (head circumference, 34.0 cm [-4.6 SD]). Brain MRI showed invisible basal ganglia, cerebral atrophy, brainstem hypoplasia, and cerebellar atrophy. At 33 months, (head circumference, 41.0 cm [-5.1 SD]), she had severe psychomotor retardation. After obtaining informed consent from her parents, we performed exome sequencing in the proband and identified 1 novel and 1 known mutation in ZNF335, namely, c.1399T>C (p.C467R) and c.1505A>G (p.Y502C), respectively. The mutations were individually transmitted by her parents, indicating that the proband was compound heterozygous for the mutations. Her brain imaging findings, including invisible basal ganglia, were similar to those observed in the previous case with ZNF335 mutations. We speculate that invisible basal ganglia may be the key feature of ZNF335 mutations. For infants presenting with both microcephaly and invisible basal ganglia, ZNF335 mutations should be considered as a differential diagnosis.

Functional analysis of BRCA1 missense variants of uncertain significance in Japanese breast cancer families.

Germline mutations in the tumor suppressor genes BRCA1 and BRCA2 are responsible for a large proportion of familial breast cancer cases, and therefore, BRCA1 and BRCA2 genetic testing has become increasingly common in clinical practice. However, variants of uncertain significance (VUS) have been detected in 16.3% of Japanese patients suspected of having hereditary breast and ovarian cancers. The clinical importance of VUS is unknown, and their incidence has led to issues in risk counseling, assessment and treatment of cancer patients. In the present study, we performed functional analyses of two VUS in BRCA1, A1752G and Y1853C that were detected in two independent breast cancer patients who were suspected of having hereditary breast cancer. Segregation analysis revealed that Y1853C, but not A1752G, was cosegregated in affected family members. Conservation, transcription and structure analyses also supported the pathogenic potential of Y1853C. Detailed segregation and in silico and in vitro analyses will enhance our understanding of VUS and improve the management of cancer patients and their families.

Prevention of pathogenic Escherichia coli infection in mice and stimulation of macrophage activation in rats by an oral administration of probiotic Lactobacillus casei I-5.

Lactobacillus casei I-5 isolated from an alcohol fermentation broth enhanced immunity and prevented pathogenic infection as a probiotic. Mice fed with I-5 cells for 11 days prior to an intraperitoneal challenge with pathogenic Escherichia coli Juhl exhibited a high survival rate compared with the control group. Rats fed with I-5 cells for 10 days significantly increased the phagocytosis of peritoneal macrophages. In a cell culture system employing peritoneal macrophages from rats, the I-5 administration activated NF-kappaB stimulated by LPS. It also enhanced LPS-stimulated IL-12 and TNF-alpha production, but not IL-6 production. These results show that L. casei I-5 effectively prevented infection by pathogenic E. coli possibly through the activation of peritoneal macrophages. The strain would be useful to prevent pathogenic microbial infections in humans and farm animals.