Mechanism of antithrombin deficiency due to the novel variant C32W in the C-terminus of the signal peptide.

Introduction: We identified a novel variant of the antithrombin (AT) gene (SERPINC1), c.96 T>G, p.Cys32Trp (C32W), located at the signal peptide cleavage site in a patient with congenital AT deficiency.

Large-scale purification of mitochondrial protein complexes in yeast expression system for structural analyses.

Recent developments in cryo-electron microscopy techniques have facilitated intensive research into determining protein structures. Nevertheless, the structures of some mitochondrial membrane protein complexes remain undetermined. One possible reason for this research gap is that mitochondrial membrane protein complexes are difficult to overexpress and purify.

Effect of Posterior Decompression on the Spinal Cord of Thoracic Ossification of the Posterior Longitudinal Ligament: A Finite Element Analysis.

Objective: Thoracic ossification of the posterior longitudinal ligament (T-OPLL) causes myelopathy. Although posterior decompression for T-OPLL has shown positive results, patients with kyphotic curvatures often endure poor outcomes. Posterior decompression with fusion (PDF) has demonstrated better results compared to posterior decompression alone.

Prediction of antibody production performance change in Chinese hamster ovary cells using morphological profiling.

Monoclonal antibodies (mAbs) represent a significant segment of biopharmaceuticals, with the market for mAb therapeutics expected to reach $200 billion in 2021. Chinese Hamster Ovary (CHO) cells are the industry standard for large-scale mAb production owing to their adaptability and genetic engineering capabilities. However, maintaining consistent product quality is challenging, primarily because of the inherent genetic instability of CHO cells.

Lifestyle parameters of Japanese agricultural and non-agricultural workers aged 60 years or older and less than 60 years: A cross-sectional observational study.

Objectives: Improving the lifestyle of occupational workers is essential for extending healthy life expectancy. We investigated various lifestyle-related items in a rural Japanese population and compared them between agricultural and non-agricultural workers.

Methods: This cross-sectional study was conducted as a part of the "Iwaki Health Promotion Project.

The structurally diverse phytocannabinoids cannabichromene, cannabigerol and cannabinol significantly inhibit amyloid β-evoked neurotoxicity and changes in cell morphology in PC12 cells.

Background: Phytocannabinoids (pCBs) have been shown to inhibit the aggregation and neurotoxicity of the neurotoxic Alzheimer's disease protein beta amyloid (Aβ). We characterized the capacity of six pCBs-cannabichromene (CBC), cannabigerol (CBG), cannabinol (CBN), cannabidivarin (CBDV), cannabidiol (CBD) and Δ -tetrahydrocannabinol (Δ -THC)-to disrupt Aβ aggregation and protect against Aβ-evoked neurotoxicity in PC12 cells.

Methods: Neuroprotection against lipid peroxidation and Aβ-induced cytotoxicity was assessed using the MTT assay.

Functional analysis of two abnormal antithrombin proteins with different intracellular kinetics.

Introduction: Hereditary antithrombin (AT) deficiency type I causes venous thrombosis due to decreased levels of AT antigen in the blood. We identified one novel and one known abnormal variant in two unrelated Japanese families with venous thrombosis. In this study, we analyzed the mechanism by which these abnormal variants cause type I AT deficiency.

Identification and functional analysis of three novel genetic variants resulting in premature termination codons in three unrelated patients with hereditary antithrombin deficiency.

Hereditary antithrombin (AT) deficiency is an autosomal dominant inherited thrombophilia. In three pedigrees of hereditary type I AT deficiency, we identified novel variants c.126delC (p.

Label-free morphological sub-population cytometry for sensitive phenotypic screening of heterogenous neural disease model cells.

Label-free image analysis has several advantages with respect to the development of drug screening platforms. However, the evaluation of drug-responsive cells based exclusively on morphological information is challenging, especially in cases of morphologically heterogeneous cells or a small subset of drug-responsive cells. We developed a novel label-free cell sub-population analysis method called "in silico FOCUS (in silico analysis of featured-objects concentrated by anomaly discrimination from unit space)" to enable robust phenotypic screening of morphologically heterogeneous spinal and bulbar muscular atrophy (SBMA) model cells.

Quantitative evaluation of upper limb ataxia in spinocerebellar ataxias.

Objective: To quantitatively evaluate upper limb ataxia using a novel pen-like sensor device in patients with spinocerebellar ataxia (SCA) and to assess its validity, reliability, and sensitivity to disease progression.

Methods: We designed a cross-sectional and longitudinal study of patients with SCA and healthy controls. Upper limb ataxia was evaluated using a device that measures the three-dimensional position every 10 msec.

Morphological heterogeneity description enabled early and parallel non-invasive prediction of T-cell proliferation inhibitory potency and growth rate for facilitating donor selection of human mesenchymal stem cells.

Background: Within the extensively developed therapeutic application of mesenchymal stem cells (MSCs), allogenic immunomodulatory therapy is among the promising categories. Although donor selection is a critical early process that can maximize the production yield, determining the promising candidate is challenging owing to the lack of effective biomarkers and variations of cell sources. In this study, we developed the morphology-based non-invasive prediction models for two quality attributes, the T-cell proliferation inhibitory potency and growth rate.

Late onset of coronary ostial stenosis following surgical aortic valve replacement in a patient with anomalous origin of the right coronary artery.

Surgical aortic valve replacement (SAVR) in patients with anomalous origination of a coronary artery from the opposite sinus is associated with risk for myocardial ischemia during the perioperative period. [1] However, iatrogenic coronary ostial stenosis (ICOS) generally occurs within the first 6 months after SAVR. We present an unusual case of a 74-year-old man with anomalous origination of the right coronary artery from the left coronary sinus, who developed effort angina due to ICOS 19 months following SAVR and ascending aorta replacement.

Predicting quality decay in continuously passaged mesenchymal stem cells by detecting morphological anomalies.

With rapid advances in cell therapy, technologies enabling both consistency and efficiency in cell manufacturing are becoming necessary. Morphological monitoring allows practical quality maintenance in cell manufacturing facilities, but relies heavily on human skill. For more reproducible and data-driven quality evaluation, image-based morphological analysis provides multiple advantages over manual observation.

The importance of scoring recognition fitness in spheroid morphological analysis for robust label-free quality evaluation.

Because of the growing demand for human cell spheroids as functional cellular components for both drug development and regenerative therapy, the technology to non-invasively evaluate their quality has emerged. Image-based morphology analysis of spheroids enables high-throughput screening of their quality. However, since spheroids are three-dimensional, their images can have poor contrast in their surface area, and therefore the total spheroid recognition by image processing is greatly dependent on human who design the filter-set to fit for their own definition of spheroid outline.

Platypnea-Orthodeoxia Syndrome Associated with Spontaneously Ruptured Chordae Tendineae of Tricuspid Valve.

• POS is a rare clinical condition. • Symptoms are upright posture dyspnea and arterial desaturation. • Supine and sitting position oxygen saturation levels suggest right-to-left shunt.

Effect of mechanical vibration stress in cell culture on human induced pluripotent stem cells.

The development of induced pluripotent stem cell (iPSC) techniques has solved various limitations in cell culture including cellular proliferation and potency. Hence, the expectations on wider applications and the quality of manufactured iPSCs are rapidly increasing. To answer such growing expectations, enhancement of technologies to improve cell-manufacturing efficiency is now a challenge for the bioengineering field.

In-process evaluation of culture errors using morphology-based image analysis.

Introduction: Advancing industrial-scale manufacture of cells as therapeutic products is an example of the wide applications of regenerative medicine. However, one bottleneck in establishing stable and efficient cell manufacture is quality control. Owing to the lack of effective in-process measurement technology, analyzing the time-consuming and complex cell culture process that essentially determines cellular quality is difficult and only performed by manual microscopic observation.

Controlled antegrade intimal tracking with subintimal balloon inflation as a novel bailout technique for chronic total occlusion after failed intravascular ultrasound-guided parallel wire technique.

Failure to cross with a guidewire is the most common reason for failure of chronic total occlusion (CTO) percutaneous coronary intervention (PCI). In cases of CTO PCI with no interventional collaterals, an intravascular ultrasound (IVUS)-guided parallel wire technique is usually the last-resort procedure. Failure of this technique sometimes causes enlarged subintimal space, resulting in procedure failure.

New tyrosinase inhibitory decapeptide: Molecular insights into the role of tyrosine residues.

Tyrosinase, a rate-limiting enzyme in melanin biosynthesis, catalyzes the hydroxylation of l-tyrosine to 3,4-dihydroxy-l-phenylalanine (l-dopa) (monophenolase reaction) and the subsequent oxidation of l-dopa to l-dopaquinone (diphenolase reaction). Thus, tyrosinase inhibitors have been proposed as skin-lightening agents; however, many of the existing inhibitors cannot be widely used in the cosmetic industry due to their high cytotoxicity and instability. On the other hand, some tyrosinase inhibitory peptides have been reported as safe.