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05). When centered on the corneal apex, the zone mode showed lower prediction error than the ring mode at 4- and 5-mm corneas (both P less then 0.001), regardless of asymmetric or symmetric astigmatism. In symmetric bowtie, the zone mode showed lower prediction error than the ring mode at 2-mm cornea of the small bowtie, and 4- and 5-mm corneas of the large bowtie (all P less then 0.05). Conclusions For toric IOL planning, the corneal apex may be a better reference center. At a cornea diameter ≥4 mm, the zone mode is more accurate than the ring mode. Local topography affects prediction accuracy in the symmetric bowtie.Purpose To broaden the mutation and phenotype spectrum of the GJA8 and CHMP4B genes and to reveal genotype-phenotype correlations in a cohort of Chinese patients with congenital cataracts (CCs). Methods Six Chinese Han families with CCs inherited in an autosomal dominant (AD) pattern were recruited for this study. All patients underwent full ocular examinations. Genomic DNA was extracted from the leukocytes of peripheral blood collected from all available patients and their unaffected family members. Whole-exome sequencing (WES) was performed on all probands and at least one of their parents. Candidate variants were further confirmed by Sanger sequencing. Bioinformatic analysis with several computational predictive programs was performed to assess the impacts of the candidate variants on the structure and function of the proteins. Results Four heterozygous candidate variants in three different genes (CRYBB2, GJA8, and CHMP4B) were identified in affected individuals from the six families, including two novel mnatal diagnosis for families carrying these genetic variants.Hereditary hemochromatosis is a genetic iron overload disease related to a mutation within the HFE gene that controls the expression of hepcidin, the master regulator of systemic iron metabolism. The natural stable iron isotope composition in whole blood of control subjects is different from that of hemochromatosis patients and is sensitive to the amount of total iron removed by the phlebotomy treatment. The use of stable isotopes to unravel the pathological mechanisms of iron overload diseases is promising but hampered by the lack of data in organs involved in the iron metabolism. Here, we use Hfe -/- mice, a model of hereditary hemochromatosis, to study the impact of the knock-out on iron isotope compositions of erythrocytes, spleen and liver. Iron concentration increases in liver and red blood cells of Hfe -/- mice compared to controls. The iron stable isotope composition also increases in liver and erythrocytes, consistent with a preferential accumulation of iron heavy isotopes in Hfe -/- mice. In contrast, no difference in the iron concentration nor isotope composition is observed in spleen of Hfe -/- and control mice. Our results in mice suggest that the observed increase of whole blood isotope composition in hemochromatosis human patients does not originate from, but is aggravated by, bloodletting. The subsequent rapid increase of whole blood iron isotope composition of treated hemochromatosis patients is rather due to the release of hepatic heavy isotope-enriched iron than augmented iron dietary absorption. Further research is required to uncover the iron light isotope component that needs to balance the accumulation of hepatic iron heavy isotope, and to better understand the iron isotope fractionation associated to metabolism dysregulation during hereditary hemochromatosis.Objective The aim of this study is to investigate, in ovulatory patients, whether there is a difference in reproductive outcomes following frozen-thawed embryo transfer (FET) in natural cycles (NC) compared to modified natural cycles (mNC). Methods This retrospective cohort study, performed at the public tertiary fertility clinic, involved all infertile patients undergoing endometrial preparation prior to FET in NC and mNC from January, 2017 to November, 2020. One thousand hundred and sixty-two patients were divided into two groups mNC group (n = 248) had FET in a NC after ovulation triggering with human chorionic gonadotropin (hCG); NC group (n = 914) had FET in a NC after spontaneous ovulation were observed. The primary outcome was live birth rate. All pregnancy outcomes were analyzed by propensity score matching (PSM) and multivariable logistic regression analyses. Results The NC group showed a higher live birth rate [344/914 (37.6%) vs. 68/248 (27.4%), P = 0.003; 87/240 (36.3%) vs. 66/240 (27.5%), P = 0.040] than the mNC group before and after PSM analysis. Multivariable analysis also showed mNC to be associated with a decreased likelihood of live birth compared with NC [odds ratio (OR) 95% confidence interval (CI) 0.71 (0.51-0.98), P = 0.039]. Conclusion For women with regular menstrual cycles, NC-FET may have a higher chance of live birth than that in the mNC-FET cycles. As a consequence, it's critical to avoid hCG triggering as much as possible when FETs utilize a natural cycle strategy for endometrial preparation. Nevertheless, further more well-designed randomized clinical trials are still needed to determine this finding.Purpose Portable chest radiographs are diagnostically indispensable in intensive care units (ICU). This study aimed to determine if the proposed machine learning technique increased in accuracy as the number of radiograph readings increased and if it was accurate in a clinical setting. Methods Two independent data sets of portable chest radiographs (n = 380, a single Japanese hospital; n = 1,720, The National Institution of Health [NIH] ChestX-ray8 dataset) were analyzed. Each data set was divided training data and study data. Images were classified as atelectasis, pleural effusion, pneumonia, or no emergency. DenseNet-121, as a pre-trained deep convolutional neural network was used and ensemble learning was performed on the best-performing algorithms. Diagnostic accuracy and processing time were compared to those of ICU physicians. Results In the single Japanese hospital data, the area under the curve (AUC) of diagnostic accuracy was 0.768. The area under the curve (AUC) of diagnostic accuracy significantly improved as the number of radiograph readings increased from 25 to 100% in the NIH data set. The AUC was higher than 0.9 for all categories toward the end of training with a large sample size. The time to complete 53 radiographs by machine learning was 70 times faster than the time taken by ICU physicians (9.66 s vs. 12 min). The diagnostic accuracy was higher by machine learning than by ICU physicians in most categories (atelectasis, AUC 0.744 vs. 0.555, P less then 0.05; pleural effusion, 0.856 vs. 0.706, P less then 0.01; pneumonia, 0.720 vs. 0.744, P = 0.88; no emergency, 0.751 vs. 0.698, P = 0.47). Conclusions We developed an automatic detection system for portable chest radiographs in ICU setting; its performance was superior and quite faster than ICU physicians.Background Breast cancer is one of the most common malignancies in women worldwide. The purpose of this study was to identify the hub genes and construct prognostic signature that could predict the survival of patients with breast cancer (BC). Methods We identified differentially expressed genes between the responder group and non-responder group based on the GEO cohort. Drug-resistance hub genes were identified by weighted gene co-expression network analysis, and a multigene risk model was constructed by univariate and multivariate Cox regression analysis based on the TCGA cohort. Immune cell infiltration and mutation characteristics were analyzed. Results A 5-gene signature (GP6, MAK, DCTN2, TMEM156, and FKBP14) was constructed as a prognostic risk model. The 5-gene signature demonstrated favorable prediction performance in different cohorts, and it has been confirmed that the signature was an independent risk indicater. The nomogram comprising 5-gene signature showed better performance compared with other clinical features, Further, in the high-risk group, high M2 macrophage scores were related with bad prognosis, and the frequency of TP53 mutations was greater in the high-risk group than in the low-risk group. In the low-risk group, high CD8+ T cell scores were associated with a good prognosis, and the frequency of CDH1 mutations was greater in the low-risk group than that in the high-risk group. At the same time, patients in the low risk group have a good response to immunotherapy in terms of immunotherapy. The results of immunohistochemistry showed that MAK, GP6, and TEMEM156 were significantly highly expressed in tumor tissues, and DCTN2 was highly expressed in normal tissues. Conclusions Our study may find potential new targets against breast cancer, and provide new insight into the underlying mechanisms.Purpose To investigate the demographic and corneal factors associated with the occurrence of delayed reepithelialization (DRE) after epithelium-off crosslinking (epi-off CXL). DesignRetrospective case series. MethodsA chart review was performed to identify patients treated with epi-off CXL. DRE was defined as a corneal epithelial defect detected by fluorescein staining that persisted for more than 10 days. Slit-lamp examination, anterior segment optical coherence tomography, corneal topography, and corneal in vivo confocal microscopy (IVCM) were always performed preoperatively and at each follow-up visit (1, 3, 6, 12 months). A generalized estimating equation was used to assess the baseline factors associated with DRE. ResultsData from 153 eyes were analyzed. The mean age of patients was 24.9 ± 8.5 years, and 47 (30.7%) were women. The average reepithelization time was 4.7 ± 1.8 days. Six eyes (3.9%) experienced DRE. In the multivariate model, both the age of the patient (OR = 1.30; p = 0.02) and the corneal steepest meridian (OR = 0.44, p = 0.047) were associated with DRE. Baseline nerve count was also associated with DRE (0.87, p = 0.03). Male gender was associated with a slower early nerve regrowth (1-6 months) (p = 0.048), but not with the occurrence of DRE (p = 0.27). Preoperative central corneal thickness was not related to DRE (p = 0.16). S3I-201 supplier DRE was not associated with keratoconus progression after epi-off CXL (p = 0.520). ConclusionsThe association between DRE and age may reflect the age-related decrease in the corneal healing response. Also, low baseline corneal nerve count is associated with DRE. Gender seems to affect reinnervation measured by IVCM but not the reepithelization time. DRE does not seem to affect the efficacy of epi-off CXL.Psoriasis is a chronic multisystem inflammatory disease that affects ~0.1-1.5% of the world population. The classic cutaneous manifestation of psoriasis is scaly erythematous plaques, limited or widely distributed. Moreover, psoriasis could be associated with comorbidities like psoriatic arthritis, metabolic syndrome, diabetes, cardiovascular disease, nephropathy, bowel disease, and brain diseases. In this review, we suggest that psoriasis should be classified as cutaneous psoriasis or systemic psoriasis and propose the classification for distinction. This would help to better understand and manage psoriasis.Sickle cell disease is a major public health problem in India. Lack of rapid and reliable diagnostic methods result in many avoidable deaths in affected population. Current diagnostic tools are laboratory based, expensive and need trained manpower. Here, we evaluated the performance of a microchip-based cellulose acetate electrophoresis test, "Gazelle" in the tribal-dominated Indian states of Chhattisgarh and Madhya Pradesh. A total of 1,050 patients were screened by sickle cell solubility, hemoglobin (cellulose acetate) electrophoresis, high-performance liquid chromatography (HPLC) and Gazelle. Of the total 1,027 test results obtained, 960 tests were "Valid" (93.5%) and included in the analysis. Gazelle identified all patients with disease (HbSS and Thalassemia Major) with 100% accuracy. Gazelle demonstrated 100% sensitivity when comparing sickle cell disease (SCD) vs. sickle cell trait and SCD vs. normal. Specificity was 98.9% and 99.5% when comparing SCD vs. trait and trait vs. normal, respectively. Specificity was 99.