Novel GUCY2D Variant (E843Q) at Mutation Hotspot Associated with Macular Dystrophy in a Japanese Patient.

BACKGROUND: The GUCY2D (guanylate cyclase 2D) gene encodes a photoreceptor guanylate cyclase (GC-E), that is predominantly expressed in the cone outer segments. Mutations in the GUCY2D lead to severe retinal disorders such as autosomal dominant cone-rod dystrophy (adCRD) and autosomal recessive Leber congenital amaurosis type 1. The purpose of this study was to identify the phenotype of a Japanese patient with a probably pathogenic GUCY2D variant. METHODS: Detailed ophthalmic examinations were performed, and whole exome sequencing was performed on DNA obtained from the patient. The variants identified by exome sequencing and targeted analysis were further confirmed by direct sequencing. RESULTS: A 47-year-old man had atrophic and pigmentary changes in the macula of both eyes. Amplitudes and implicit times on full-field electroretinograms (ERGs) were within normal limits; however, the densities of multifocal ERGs in the central area were reduced in both eyes. Whole exome sequencing identified heterozygous variant c.2527G>C, p.Glu843Gln in the GUCY2D gene within the mutation hot spot for adCRD. The allelic frequencies of this variant are extremely low and, according to American College of Medical Genetics and Genomics standards and guidelines, the variants are classified as likely pathogenic. CONCLUSIONS: This is the first report of a heterozygous variant, c.2527G>C, p.Glu843Gln, in the GUCY2D, in a patient presenting with mild macular dystrophy without a general reduction in cone function. Our findings expand the spectrum of the clinical phenotypes of GUCY2D-adCRD and help clarify the morphological and functional changes caused by defects of dimerization of GC-E in the phototransduction cascade.

Quality of basic life support education and automated external defibrillator setting in schools in Ishikawa, Japan.

BACKGROUND: Automated external defibrillators (AED) have been installed in schools in Japan since 2004, and the government strongly recommends teaching basic life support (BLS). We therefore examined the quality of BLS education and AED installation in schools. METHODS: We conducted a prefecture-wide questionnaire survey of all primary and junior high schools in 2016, to assess BLS education and AED installation against the recommendations of the Japan Circulation Society. The results were analyzed using descriptive statistics and chi-squared test. RESULTS: In total, 195 schools out of 315 (62%) responded, of which 38% have introduced BLS education for children. BLS training was held in a smaller proportion of primary schools (18%) than junior high schools (86%). More than 90% of primary school staff had undergone BLS training in the previous 2 years. The most common locations of AED were the gymnasium (32%) followed by entrance hall (28%), staffroom (25%), and infirmary (12%). The reasons given for location were that it was obvious (34%), convenient for staff (32%), could be used out of hours (17%), and the most likely location for a heart attack (15%). Approximately 18% of schools reported that it takes >5 min to reach the AED from the furthest point. CONCLUSION: BLS training, AED location, and understanding of both are not sufficient to save children's lives efficiently. Authorities should make recommendations about the correct number of AED, and their location, and provide more information to improve the quality of BLS training in schools.

Claude's Syndrome without Ptosis Caused by a Midbrain Infarction.

An 80-year-old man with angina pectoris abruptly developed Claude's syndrome, which consisted of left-sided partial oculomotor nerve palsy without ptosis and right-sided hemiataxia. There were no other neurological abnormalities. Cranial magnetic resonance imaging indicated an infarction of the left inferior paramedian mesencephalic artery, which may have involved the most caudal portion of the oculomotor fascicules. With anti-platelet therapy, the patient became asymptomatic within 10 days. The oculomotor fascicular arrangement in humans remains unclear. Our case suggests that in the oculomotor fascicles, the fibers to the levator palpebrae superioris may be located more in the rostral region than previously hypothesized.

Effect of hypochlorite oxidation on cholinesterase-inhibition assay of acetonitrile extracts from fruits and vegetables for monitoring traces of organophosphate pesticides.

A reproducible method for monitoring traces of cholinesterase (ChE) inhibitors in acetonitrile extracts from fruits and vegetables is described. The method is based on hypochlorite oxidation and ChE inhibition assay. Four common representative samples of produce were selected from a supermarket to investigate the effect of different matrices on pesticides recoveries and assay precision. The samples were extracted with acetonitrile to prepare them for ChE inhibition assays: if necessary, clean-up was performed using dispersive solid-phase extraction for gas chromatography-mass spectrometry (GC/MS) analyses. Chlorine was tested as an oxidising reagent for the conversion of thiophosphorus pesticides (P=S compounds) into their P=O analogues, which have high ChE-inhibiting activity. Chlorine consumption of individual acetonitrile extracts was determined and was strongly dependent on the individual types of fruits and vegetables. After treating the acetonitrile extracts with an excess hypochlorite at 25°C for 15 min, the ChE-inhibiting activities and detection limits for each chlorine-treated pesticide solution were determined. Matrix composition did not interfere significantly with the determination of the pesticides. Enhanced anti-ChE activities leading to low detection limits (ppb levels) were observed for the chlorine-treated extracts that were spiked with chlorpyrifos, diazinon, fenitrothion, and isoxathion. This combination of oxidative derivatisation and ChE inhibition assays was used successfully to monitor and perform semi-quantitative determination of ChE inhibitors in apple, tomato, cucumber, and strawberry samples.

Extensive RNA editing in transcripts from the PsbB operon and RpoA gene of plastids from the enigmatic moss Takakia lepidozioides.

RNA editing is a post-transcriptional process that changes individual nucleotides in transcripts, and usually occurs in the plastids of land plants. The number of RNA editing sites in a plastid is significantly divergent in bryophytes, ranging from zero in liverworts to almost 1,000 sites in hornworts. In this study, we identified 132 RNA editing sites in the transcripts of six genes from the psbB operon and the rpoA of the moss Takakia lepidozioides. This is the highest number of RNA editing sites known in this region among land plant species. All were cytidine-to-uridine conversions. More than 91% of RNA editing occurred at the first or second codon positions, and it altered amino acid identity. Six editing sites created new translation initiation codons or stop codons. Thirty-two sites were commonly observed in the hornwort Anthoceros angustus. This finding suggests that the enigmatic bryophyte Takakia is closely related to hornworts with respect to RNA editing events.