A single nucleotide polymorphism in SPATA17 may be a genetic risk factor for Japanese patients with meiotic arrest

金沢大学医薬保健研究域医学系Genetic mechanisms have been implicated as a cause of some cases of male infertility. Recently, 10 novel genes involved in human spermatogenesis were identified by microarray analysis of human testicular tissue. One of these is spermatogenesis-associated 17 (SPATA17). To investigate whether defects in the SPATA17 gene are associated with azoospermia due to meiotic arrest, a mutational analysis was conducted, in which the SPATA17 coding regions of 18 Japanese patients with this condition were sequenced. A statistical analysis was carried out that included 18 patients with meiotic arrest, 20 patients with Sertoli-cell-only syndrome (SCOS) and 96 healthy control men. No mutations were found in SPATA17. However, three coding single nucleotide polymorphisms (cSNPs: SNP1-SNP3) were detected in the patients with meiotic arrest. No significant differences in the genotype or allele frequencies of SNP1 and SNP2 were found between patients with meiotic arrest and the others. However, the frequency of the SNP3 allele was significantly elevated in the meiotic arrest group (P < 0.05). This study suggests that SPATA17 may play a critical role in human spermatogenesis, especially in meiosis

Deep learning-based morphology classification of activated sludge flocs in wastewater treatment plants

Microscopy inspection of the morphology of activated sludge (AS) flocs can provide important information regarding the AS properties, which strongly affect the performance of AS systems. However, the acquisition of such information from microscopy inspection results requires skilled and specialized expertise. In this study, we aimed to develop two deep learning- based two-label classifiers for recognizing aggregated or dispersed flocs (Classifier-1) and the presence or absence of filamentous bacteria (Classifier-2). To achieve this, we used a convolutional neural network (CNN)-based method and selected the pre-trained Inception v3 as the CNN architecture. We developed an automatic microscopy image acquisition system, enabling us to obtain 154 images for 7 min. Over 12,000 images of aggregated and dispersed flocs were obtained from wastewater treatment plant (WWTP)-S and -E over 15 weeks. Clasifier-1 was retrained using these images. Clasifier-1 distinguished the aggregated and dispersed flocs with a training accuracy of approximately 95% and recognized a 20% morphological change in the aggregated flocs. Classifier-1 also recognized the morphology of AS flocs obtained from other WWTPs, the AS from which was used for retraining. Classifier-2 quantitatively recognized an abundance of filamentous bacteria in the AS flocs. These results clearly indicated that the developed image classification model could serve as a useful warning system for the settleability deterioration and abundance of filamentous bacteria in the aeration tank of a full-scale AS system

Essential role of the cytochrome P450 CYP4F22 in the production of acylceramide, the key lipid for skin permeability barrier formation

A skin permeability barrier is essential for terrestrial animals, and its impairment causes several cutaneous disorders such as ichthyosis and atopic dermatitis. Although acylceramide is an important lipid for the skin permeability barrier, details of its production have yet to be determined, leaving the molecular mechanism of skin permeability barrier formation unclear. Here we identified the cytochrome P450 gene CYP4F22 as the long-sought fatty acid ω- hydroxylase gene required for acylceramide production. CYP4F22 has been identified as one of the autosomal recessive congenital ichthyosis-causative genes. Ichthyosis mutant proteins exhibited reduced enzyme activity, indicating correlation between activity and pathology. Furthermore, lipid analysis of an ichthyosis patient showed a drastic decrease in acylceramide production. We determined that CYP4F22 was a type I membrane protein that locates in the endoplasmic reticulum (ER), suggesting that the ω-hydroxylation occurs on the cytoplasmic side of the ER. The preferred substrate of the CYP4F22 was ?C28 fatty acids. In conclusion, our findings demonstrated that CYP4F22 is an ultra long-chain fatty acid ω-hydroxylase responsible for acylceramide production and provides important new insights into the molecular mechanisms of skin permeability barrier formation. Furthermore, based on the results obtained here, we proposed a detailed reaction series for acylceramide production

Socioeconomic status and type 2 diabetes complications among young adult patients in Japan

<div><p>Objective</p><p>To assess the relationship between socioeconomic status (SES) and complications of type 2 diabetes among young adults in Japan.</p><p>Design</p><p>A cross-sectional study.</p><p>Setting</p><p>Outpatient wards of 96 member hospitals and clinics of the Japan Federation of Democratic Medical Institutions.</p><p>Participants</p><p>A total of 782 outpatients with type 2 diabetes (525 males, 257 females), aged 20–40 years as of March 31, 2012. After excluding 110 participants whose retinopathy diagnosis was in question, 672 participants were analyzed.</p><p>Measurements</p><p>We examined the relations between SES (educational level, income, type of public healthcare insurance, and employment status) and diabetes complications (retinopathy and nephropathy) using a multivariate logistic regression analysis.</p><p>Results</p><p>The prevalence of type 2 diabetic retinopathy was 23.2%, while that of nephropathy was 8.9%. The odds of having retinopathy were higher among junior high school graduates (OR 1.91, 95% CI 1.09–3.34), patients receiving public assistance (OR 2.19, 95% CI 1.20–3.95), and patients with irregular (OR 1.72, 95% CI 1.03–2.86) or no employment (OR 2.23, 95% CI 1.36–3.68), compared to those with a higher SES, even after covariate adjustment (e.g., age, gender, body mass index). Similarly, the odds of having nephropathy were higher among patients with middle (OR 3.61, 95% CI 1.69–8.27) or low income levels (OR 2.53, 95% CI 1.11–6.07), even after covariate adjustment.</p><p>Conclusions</p><p>Low SES was associated with a greater likelihood of type 2 diabetes complications in young adults. These findings suggest the necessity of health policies that mitigate socioeconomic disparity and thereby reduce the prevalence of diabetic complications.</p></div