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Okur-Chung neurodevelopmental syndrome is a rare autosomal dominant disorder caused by pathogenic variants in CSNK2A1, which encodes the alpha 1 catalytic subunit of ­casein kinase II. This syndrome is characterized by intellectual disability, developmental delay, and multisystemic ­abnormalities including those of the brain, extremities, and skin as well as cardiovascular, gastrointestinal, and immune systems. In this study, we describe a 5-year-old boy with a de novo novel nonsense variant in CSNK2A1, NM_001895.3:c.319C>T (p.Arg107*). He showed bilateral persistent hyperplastic primary vitreous with microphthalmia, lens dysplasia, and coloboma. Ocular manifestations are very rare in this syndrome, and this study expands the spectrum of the clinical presentations of this syndrome.

Variants of GRIN1, which encodes GluN1, are associated with developmental delay, epilepsy, and cortical malformation. Here, we report a case of arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a heterozygous variant, c.1949A>C, p.(Asn650Thr) of GRIN1, which could result in the disruption of the third transmembrane domain (M3) of GluN1. This case expands our understanding of the known phenotypes of GRIN1-related neurodevelopmental disorders.

Kabuki syndrome is characterized by a variable degree of intellectual disability, characteristic facial features, and complications in various organs. Many variants have been identified in two causative genes, that is, lysine methyltransferase 2D (KMT2D) and lysine demethylase 6A (KDM6A). In this study, we present the results of genetic screening of 100 patients with a suspected diagnosis of Kabuki syndrome in our center from July 2010 to June 2018. We identified 76 variants (43 novel) in KMT2D and 4 variants (3 novel) in KDM6A as pathogenic or likely pathogenic. Rare variants included a deep splicing variant (c.14000-8C>G) confirmed by RNA sequencing and an 18% mosaicism level for a KMT2D mutation. We also characterized a case with a blended phenotype consisting of Kabuki syndrome, osteogenesis imperfecta, and 16p13.11 microdeletion. We summarized the clinical phenotypes of 44 patients including a patient who developed cervical cancer of unknown origin at 16 years of age. This study presents important details of patients with Kabuki syndrome including rare clinical cases and expands our genetic understanding of this syndrome, which will help clinicians and researchers better manage and understand patients with Kabuki syndrome they may encounter.

Objective COL4A1 variant causes severe central nervous system (CNS) anomalies, including hydranencephaly. However, the pathogenic mechanism underlying the COL4A1 phenotype remains unclear. Here, we report de novo COL4A1 variants in four Japanese patients with typical or rare CNS involvement and exhibiting diverse phenotypes. Methods We identified and enrolled four patients with white matter abnormalities and cerebral structural defects suggestive of cerebrovascular disease. Genetic analysis was performed using panel sequencing. Results All the patients were perinatally asymptomatic during the infantile period but exhibited developmental delay and growth retardation later. All the patients exhibited CNS symptoms, including psychomotor disability, spastic paralysis, and epilepsy. Brain magnetic resonance imaging revealed hydranencephaly (n = 1), ventriculomegaly (n = 4) associated with cerebral hemorrhage, and atretic encephalocele (n = 1). Three patients had developed congenital cataract, while two had hematuria. We identified two COL4A1 missense variants [exon32:c.2555G > A p.(Gly852Asp), exon40:c.3407G > A p.(Gly1136Asp)] and two in frame variants [exon32:c.2603_2609delinsATCCTGA p.(Ala868_Gly870delinsAspProGlu), exon36:c.3054delinsTGTAGAT p.(Leu1018delinsPheValAsp)]. The in frame variants were associated with severe CNS anomalies, hydranencephaly, and severe ventriculomegaly. Atretic encephalocele has never been reported in individuals with COL4A1 variants. Conclusions Our findings suggest that COL4A1 variants cause variable CNS symptoms. Association between clinical phenotypes and each COL4A1 variant would clarify their underlying etiologies.

Introduction: Types 2 and 3 Gaucher disease (GD) are neuronopathic forms that are mainly distinguished by the rate of neurological degeneration. All symptomatic children with type 1 or 3 GD should receive enzyme replacement therapy (ERT), whereas the treatment of children with type 2 GD is usually supportive. Case Presentation: We present the case of a 3-month-old Japanese girl diagnosed with neuronopathic GD. She initially presented with failure to thrive and inspiratory stridor. Treatment using ERT was initiated at 5 months of age. Genetic analysis of glucosylceramidase beta (GBA) revealed a compound heterozygous mutation including RecNciI and the novel missense mutation c.1052G > T (p.W351L). Although several clinical improvements were observed, she showed rapid neurological deterioration at 8 months of age. Conclusions: The patient with the compound heterozygous mutation including RecNciI and c.1052G > T (p.W351L) in GBA presented with clinical symptoms consistent with those of type 2 GD. ERT was initiated at 5 months of age; however, it failed to prevent refractory seizures and neurological deterioration.

Primrose syndrome (OMIM 259050) is a rare disorder characterised by macrocephaly with developmental delay, a recognisable facial phenotype, altered glucose metabolism, and other features such as sensorineural hearing loss, short stature, and calcification of the ear cartilage. It is caused by heterozygous variants in ZBTB20, a member of the POK family of transcription repressors. Recently, this gene was shown to have a role in skeletal development through its action on chondrocyte differentiation by repression of SOX9. We describe five unrelated patients with Primrose syndrome and distinct skeletal features including multiple Wormian bones, platybasia, bitemporal bossing, bathrocephaly, slender bones, epiphyseal and spondylar dysplasia. The radiological abnormalities of the skull and the epiphyseal dysplasia were the most consistent findings. This novel constellation of skeletal features expands the phenotypic spectrum of the disorder.

Infection with human herpes virus 1 (HHV1) is a suspected cause of human male infertility. However, the correlation between HHV1 infection and infertility is still unclear. We have previously generated transgenic rats that ectopically express the HHV1 thymidine kinase gene (HHV1-TK) in post-meiotic spermatids and found they had aberrant spermatogenesis and infertility. Therefore, we hypothesized that human infertility might be caused by HHV1 infection. Here, we examined whether HHV1-TK is expressed in human testis by analyzing the presence of its transcript and protein. Specimens were collected by biopsy from 30 azoospermic infertile male patients. RT-PCR and immunohistochemistry showed that 23 patients were positive for HHV1-TK expression, while seven patients were negative. Thus, we demonstrated HHV1-TK expression, indicating HHV1 infection, in the testis of human azoospermic infertile males for the first time; our findings represent a great advancement toward the verification of our hypothesis that HHV1-TK expression might cause human infertility.

At construction sites and disaster areas, an enormous number of digital photographs are taken by engineers. Tasks such as collecting, sorting, annotating, storing, deleting, distributing these digital images, as done manually, are cumbersome, error-prone, and time-consuming. Thus, it is desirable to automate the object detection process of pictures so that engineers do not have to waste their valuable time and can improve the efficiency and accuracy. Although conventional machine learning could be a solution, it takes much time for researchers to determine features and contents of digital images, and the accuracy tends to be unsatisfactory. On the other hand, deep learning can automatically determine features and contents of various objects from digital images. Therefore, this research aims to automatically detect each object as an object and its position from digital images by using deep learning. Since deep learning usually requires a very large amount of dataset, this research has adopted deep learning with transfer learning, which enables object detection even if the dataset is not very large. Experiments were executed to detect construction machines, workers, and signboards in photographs, comparing among the conventional machine learning by feature values, deep learning with and without transfer learning. The result showed that the best performance was achieved by the deep learning with transfer learning.

An amorphous IV-VI diluted magnetic semiconductor Ge0.7Mn0.3Te film has been prepared by the RF sputtering on a glass substrate at room temperature. Fine crystalline wires could be sucessfully formed in the amorphous matrix by scanning a focused laser beam irradiation. The uniform crystalline pattern has been obtained with a low laser power. It was clarified that the crystalline phase in the amorphous matrix is ferromagnetic. The magnetic transport properties of crystalline wires prepared by phase transformation have been also investigated and compared with those of crystalline wires prepared by the photoetching process. The different magnetoresistance behaviors were observed when the magnetic field was applied along the transverse direction of these wires.

A multi-layered nanoparticles optical disk has been developed for a jitter-free high-density data storage system. The disk has nano structures composed of 300-nm-diameter photosensitive particles and 30-nm-width non-photosensitive buffer rings around them. With the buffer rings into the nanoparticles disk, a conventional confocal microscope equipped with a low numerical aperture (NA) objective picked up a particle’s shape signal to generate a synchronous signal on its own. In the three-dimensional structured disk proposed, no electronically-produced reference signal is necessary for clock data recover (CDR); no jitter occurs in data decoding.

An optical disk storage composed of nanospheres with buffer rings is proposed for high density recording without jitter. Nonlinear organic dyes were doped in the nanospheres as recordable bits. A new process has been devised.

In this research, a jitter-free optical storage media with high density is realized by using nano-spheres as digital recording bits. The media has an arranged structure composed of 300 nm diameter polystyrene spheres on the thin PMMA film. The optical shape signal reflected from nano-spheres is scanned with a confocal laser scanning microscope. A pickup reconstruction signal including a clocksignal is measured from the optical shape signal. This storage device is expected as a jitter-free media because no electrically-produced clocksignal is necessary for the pickup procedure.