Defining the latent phase of labour: is it important?

Background and rationale. The latent phase of labour is recognised as a period of uncertainty for women and midwives. There is evidence from the literature of considerable variation in labour definitions and practice. Stimulated by discussion at an international maternity research conference, the authors set out to explore opinions regarding the need for labour-stage definitions.  Aim. To identify health professionals’ views on the need for a definition of the onset and the end of the latent phase of labour.  Methods. This was an opportunistic, semi-structured, online survey of attendees at a maternity care research conference, which included midwives, other clinicians, academics, advocates and user representatives. Attendees (approximately 100) were invited to participate through a single email invitation sent by the conference committee and containing a link to the survey. Consent was sought on the landing page. Ethical approval was obtained from Bournemouth University’s research ethics committee. Quantitative questions were analysed using simple descriptive statistics using IBM SPSS Statistics Version 24. Open questions were analysed using content analysis and where participants gave a more detailed answer, these were analysed using a thematic approach.  Findings. Participants in the survey (n=21) came from 12 countries. Most of the participants thought that there was a need to define the onset of the latent phase (n=15, 71%). Common characteristics were cited, but the main theme in the open comments referred to the importance of women’s perceptions of labour onset. Most participants (n = 18, 86%) thought that there was a need to define the end of the latent phase. This was felt necessary because current practice within facilities is usually dictated by a definition. The characteristics suggested were also not unexpected and there was some consensus; but the degree of cervical dilatation that signified the end of the latent phase varied among participants. There was significant debate about whether a prolonged latent phase was important; for example, was it associated with adverse consequences. Most participants thought it was important (n=15, 71%), but comments indicated that the reasons for this were complex. Themes included the value that women attached to knowing the duration of labour and the need to support women in the latent phase.  Implications for practice. The findings from this small, opportunistic survey reflect the current debate within the maternal health community regarding the latent phase of labour. There is a need for more clarity around latent phase labour (in terms of both the definition and the support offered) if midwives are to provide care that is both woman centred and evidence-based. The findings will inform the development of a larger survey to explore attitudes towards labour definitions

Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan

Peripherin-2 (PRPH2) is one of the causative genes of inherited retinal dystrophy. While the gene is relatively common in Caucasians, reports from Asian ethnicities are limited. In the present study, we report 40 Japanese patients from 30 families with PRPH2-associated retinal dystrophy. We identified 17 distinct pathogenic or likely pathogenic variants using next-generation sequencing. Variants p.R142W and p.V200E were relatively common in the cohort. The age of onset was generally in the 40’s; however, some patients had earlier onset (age: 5 years). Visual acuity of the patients ranged from hand motion to 1.5 (Snellen equivalent 20/13). The patients showed variable phenotypes such as retinitis pigmentosa, cone-rod dystrophy, and macular dystrophy. Additionally, intrafamilial phenotypic variability was observed. Choroidal neovascularization was observed in three eyes of two patients with retinitis pigmentosa. The results demonstrate the genotypic and phenotypic variations of the disease in the Asian cohort

2019 年度看護学部教育課程の改定について

紀要委員会企画Special Articles　本稿は、本学看護学部の2019 年度教育課程改定における活動内容の概要を記した。2012 年に教育課程変更を行って５年が経過したことや、教育職員免許法の改正により養護教諭課程の再課程認定に伴い、2019 年度に向けて看護学部教育課程の改定を行うことになった。2017 年度からカリキュラム検討委員会を中心に教育課程の検討を行い、２年間に渡って教育課程改定に向けて活動した内容をまとめた。2019 年度新教育課程としては、地域包括ケアシステムの推進に基づく社会の変遷にあわせた教育課程へと発展させるための学修内容の追加、本学の強みである充実した実習環境をもとに行われている臨地看護学実習を通して「生命の尊厳と隣人愛」に基づく教育理念を継続的に意識づけられるような教育課程を策定することができた。指定規則改正に伴う次の教育課程の改定に向けて、今回のプロセスが参考となることを期待する

Three-center-four-electron halogen bond enables non-metallic complex catalysis for Mukaiyama–Mannich-type reaction

The three-center-four-electron halogen bond (3c4e X-bond) presents a fundamental design concept for catalysis. By integrating halogen(I) (X+: I+ or Br+), bis-pyridyl ligand NN, and non- nucleophilic counter anion Y, we developed non-metallic complex catalysts, [N···X···N]Ys, that exhibited outstanding activity and facilitated the Mukaiyama–Mannich-type reaction of N- heteroaromatics with parts-per-million-level catalyst loading. The high activity of [N···X···N]SbF6 was clearly demonstrated. NMR titration experiments, CSI-MS, computations, and UV-vis spectroscopic studies suggest that the robust catalytic activity of [N···X···N]Y can be attributed to the unique feature of the 3c4e X-bond for binding chloride: i) the covalent nature transforms [N···X···N]+ complexation to sp2CH as a hydrogen bonding donor site, and ii) the noncovalent property allows for the dissociation of [N···X···N]+ for the formation of [Cl···X···Cl]–. This study introduces the application of 3c4e X-bonds for catalysis via halogen(I) complexes

Abrupt Spin Transition and Chiral Hydrogen-Bonded One-Dimensional Structure of Iron(III) Complex [FeIII(Him)2(hapen)]SbF6 (Him = imidazole, H2hapen = N,N′-bis(2-hydroxyacetophenylidene)ethylenediamine)

Solvent-free spin crossover (SCO) iron(III) complex, [FeIII(Him)2(hapen)]SbF6 (Him = imidazole, H2hapen = N,N′-bis(2-hydroxyacetophenylidene)ethylenediamine), is synthesized. The FeIII ion has an octahedral coordination geometry, with N2O2 donor atoms of hapen and N2 atoms of two imidazoles at the axial positions. The saturated five-membered chelate ring of hapen moiety assumes a gauche-type δ- or λ-conformation to give chiral species of δ-[FeIII(Him)2(hapen)]+ or λ-[FeIII(Him)2(hapen)]+. One imidazole is hydrogen-bonded to phenoxo oxygen atom of hapen of the adjacent unit to give a hydrogen-bonded chiral one-dimensional structure, {δ-[FeIII(Him)2(hapen)]+}1∞ or {λ-[FeIII(Him)2(hapen)]+}1∞. The adjacent chains with the opposite chiralities are arrayed alternately. The temperature dependences of the magnetic susceptibilities revealed an abrupt one-step spin transition between high-spin (S = 5/2) and low-spin (S = 1/2) states at the spin transition temperature of T1/2 = 105 K. The crystal structures were determined at 296 and 100 K, where the populations of HS:LS of high- and low-spin ratio are evaluated to be 1:0 and 0.3:0.7, respectively, based on magnetic measurements. During the spin transition from 296 K to 100 K, the average Fe–N distance and O–Fe–O angle decrease to a regular octahedron by 0.16 Å and 13.4°, respectively. The structural change in the coordination environment is transmitted to the adjacent spin crossover (SCO) sites along the chiral 1D chain through hydrogen-bonds. The abrupt SCO profile and the spin transition temperature for the isomorphous compounds [FeIII(Him)2(hapen)]Y (Y = PF6, AsF6, SbF6) are ascribed to the chiral hydrogen-bonded 1D structure and chain-anion interaction

Prediction of Causative Genes in Inherited Retinal Disorders from Spectral-Domain Optical Coherence Tomography Utilizing Deep Learning Techniques

Purpose. To illustrate a data-driven deep learning approach to predicting the gene responsible for the inherited retinal disorder (IRD) in macular dystrophy caused by ABCA4 and RP1L1 gene aberration in comparison with retinitis pigmentosa caused by EYS gene aberration and normal subjects. Methods. Seventy-five subjects with IRD or no ocular diseases have been ascertained from the database of Japan Eye Genetics Consortium; 10 ABCA4 retinopathy, 20 RP1L1 retinopathy, 28 EYS retinopathy, and 17 normal patients/subjects. Horizontal/vertical cross-sectional scans of optical coherence tomography (SD-OCT) at the central fovea were cropped/adjusted to a resolution of 400 pixels/inch with a size of 750 × 500 pix2 for learning. Subjects were randomly split following a 3 : 1 ratio into training and test sets. The commercially available learning tool, Medic mind was applied to this four-class classification program. The classification accuracy, sensitivity, and specificity were calculated during the learning process. This process was repeated four times with random assignment to training and test sets to control for selection bias. For each training/testing process, the classification accuracy was calculated per gene category. Results. A total of 178 images from 75 subjects were included in this study. The mean training accuracy was 98.5%, ranging from 90.6 to 100.0. The mean overall test accuracy was 90.9% (82.0–97.6). The mean test accuracy per gene category was 100% for ABCA4, 78.0% for RP1L1, 89.8% for EYS, and 93.4% for Normal. Test accuracy of RP1L1 and EYS was not high relative to the training accuracy which suggests overfitting. Conclusion. This study highlighted a novel application of deep neural networks in the prediction of the causative gene in IRD retinopathies from SD-OCT, with a high prediction accuracy. It is anticipated that deep neural networks will be integrated into general screening to support clinical/genetic diagnosis, as well as enrich the clinical education

A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family

Background Genetically determined cataract is both clinically and molecularly highly heterogeneous. Here, we have identified a heterozygous variant in the lens integral membrane protein LIM2, the second most abundant protein in the lens, responsible for congenital sutural/lamellar cataract in a three-generation Japanese family. Methods Whole exome sequencing (WES) was undertaken in one affected and one unaffected individual from a family with autosomal dominant congenital cataract to establish the underlying genetic basis. Results A recurrent missense variant LIM2: c.388C>T; p.R130C was identified and found to co-segregate with disease. In addition, one variant COL11A1:c.3788C>T of unknown significance (VUS) was also identified. Conclusions We report a variant in LIM2 causing an isolated autosomal-dominant congenital sutural/lamellar cataract in a Japanese family. This is the first report of a LIM2 variant in the Japanese population. Hence, we expand the mutation spectrum of LIM2 variants in different ethnic groups

Novel homozygous CLN3

Abstract Background Biallelic CLN3 gene variants have been found in either juvenile‐onset neuronal ceroid lipofuscinosis (JNCL) or isolated retinal dystrophy. It has been reported that most JNCL patients carry a common 1.02‐kb deletion variant homozygously. Clinical characteristics of patients with biallelic CLN3 missense variants are not well elucidated. Methods We described a 26‐year‐old Japanese male patient with isolated retinal dystrophy. Whole‐exome sequencing (WES) and transmission electron microscopy (TEM) were performed. Results Whole‐exome sequencing identified a novel homozygous CLN3 missense variant [c.482C>T; p.(Ser161Leu)]. Ophthalmoscopy revealed retinal degeneration and macular atrophy, and later attenuated retinal vessels. Severely reduced responses were observed in both rod and cone electroretinograms. In TEM of the patient's lymphocytes, fingerprint profiles, which are specific findings in CLN3‐associated JNCL, were observed in 16/624 (2.56%) lymphocytes of the patient, who has never exhibited neurological signs during the 13‐year follow‐up period. Conclusion Our results indicated that this novel CLN3 missense variant is associated with teenage‐onset isolated retinal dystrophy. This is the first report of any patient with CLN3‐associated disorder in the Japanese population. Although fingerprint profiles have never been reported in CLN3‐associated isolated retinal dystrophy, these profiles were observed, albeit infrequently, suggesting that frequency of the fingerprint profiles might depend on variant types