Search Results (7)

Background: Rare movement disorders often have a genetic etiology. New technological advances have increased the odds of achieving genetic diagnoses: next-generation sequencing (NGS) (whole-exome sequencing—WES; whole-genome sequencing—WGS) and long-read sequencing (LRS). In 2017, we launched a WES program for patients with rare movement disorders of suspected genetic etiology. We aim to describe the accumulated experience of a modern movement disorder genetic clinic, highlighting how different available genetic tests might be prioritized according to the clinical phenotype and pattern of inheritance. Methods: Participants were studied through WES analysis. Descriptive statistics, including the mean, standard deviation, counts, and percentages, were used to summarize demographic and clinical characteristics in all subjects and with each type of result [pathogenic or likely pathogenic, variants of uncertain significance (VUS), negative]. Results: We studied 88 patients (93.2% Caucasian, 5.72% African American, and 1.08% Hispanic or Latino). After excluding six family members from four index participants, the diagnostic yield of WES reached 27% (22/82 probands). The age at onset was significantly lower in patients with pathogenic/likely pathogenic variants. The most common clinical phenotypes were ataxia and parkinsonism. Dystonia, ataxia, leukoencephalopathy, and parkinsonism were associated with most genetic diagnoses. Conclusions: We propose a comprehensive protocol with decision tree testing for WGS and LRS, a return of results, and a re-analysis of inconclusive genetic data to increase the diagnostic yield of patients with rare neurogenetic disorders. Full article

Investigating the spatial-temporal evolutionary trends of future temperature and precipitation considering various emission scenarios is crucial for developing effective responses to climate change. However, researchers in Iraq have not treated this issue under CMIP6 in much detail. This research aims to examine the spatiotemporal characteristics of temperature and rainfall in northern Iraq by applying LARS-WG (8) under CMIP6 general circulation models (GCMs). Five GCMs (ACCESS-ESM1-5, CNRM-CM6-1, MPI-ESM1-2-LR, HadGEM3-GC31-LL, and MRI-ESM2-0) and two emissions scenarios (SSP245 and SSP585) were applied to project the upcoming climate variables for the period from 2021 to 2040. The research relied on satellite data from fifteen weather sites spread over northern Iraq from 1985 to 2015 to calibrate and validate the LARS-WG model. Analysis of spatial-temporal evolutionary trends of future temperature and precipitation compared with the baseline period revealed that seasonal mean temperatures will increase throughout the year for both scenarios. However, the SSP585 scenario reveals the highest increase during autumn when the spatial coverage of class (15–20) °C increased from 27.7 to 96.29%. At the same time, the average seasonal rainfall will rise in all seasons for both scenarios except autumn for the SSP585 scenario. The highest rainfall increment percentage is obtained using the SSP585 for class (120–140) mm during winter. The spatial extent of the class increased from 25.49 to 50.19%. Full article

Species of the Berberis genus, which are widely distributed naturally throughout the world, are cultivated and used for various purposes such as food, medicinal applications, and manufacturing dyes. Model-based machine learning is a language for specifying models, allowing the definition of a model using concise code, and enabling the automatic creation of software that implements the specified model. Maximum entropy (MaxEnt 3.4.1) is an algorithm used to model the appropriate distribution of species across geographical regions and is based on the species distribution model that is frequently also used in modeling the current and future potential distribution areas of plant species. Therefore, this study was conducted to estimate the current and future potential distribution areas of Berberis vulgaris in Türkiye for the periods 2041–2060 and 2081–2100, according to the SSP2 4.5 and SSP5 8.5 scenarios based on the IPSL-CM6A-LR climate change model. For this purpose, the coordinates obtained in the WGS 84 coordinate system were marked using the 5 m high spatial resolution Google Satellite Hybrid base maps, which are readily available in the 3.10.4 QGIS program, the current version of QGIS (Quantum GIS). The CM6A-LR climate model, the latest version of the IPSL climate models, was used to predict the species’ future distribution area. The area showed a high correlation with the points representing B. vulgaris, which is generally distributed in the Mediterranean and the central and eastern Black Sea regions of Türkiye, and the very suitable areas encompassed 45,413.82 km². However, when the SSP2 4.5 scenario was considered for the period 2041–2060, the areas very suitable for Berberis vulgaris comprised 59,120.05 km², and in the SSP2 4.5 scenario, very suitable areas were found to encompass 56,730.46 km² in the 2081–2100 period. Considering the SSP5 8.5 scenario for the period 2041–2060, the area most suitable for the B. vulgaris species is 66,670.39 km². In the SSP5 8.5 scenario, very suitable areas were found to cover 20,108.29 km² in the 2081–2100 period. Careful consideration of both the potential positive and negative impacts of climate change is essential, and these should be regarded as opportunities to implement appropriate adaptation strategies. The necessary conditions for the continued existence and sustainability of B. vulgaris—that is, areas with ecological niche potential—have been determined. Full article

Strømme syndrome is an ultra-rare primary ciliopathy with clinical variability. The syndrome is caused by bi-allelic variants in CENPF, a protein with key roles in both chromosomal segregation and ciliogenesis. We report three unrelated patients with Strømme syndrome and, using high-throughput sequencing approaches, we identified novel pathogenic variants in CENPF, including one structural variant, giving a genetic diagnosis to the patients. Patient 1 was a premature baby who died at 26 days with congenital malformations affecting many organs including the brain, eyes, and intestine. She was homozygous for a donor splice variant in CENPF, NM_016343.3:c.1068+1G>A, causing skipping of exon 7, resulting in a frameshift. Patient 2 was a female with intestinal atresia, microcephaly, and a Peters anomaly. She had normal developmental milestones at the age of 7 years. She is compound heterozygous for CENPF NM_016343.3:c.5920dup and c.8991del, both frameshift. Patient 3 was a male with anomalies of the brain, eye, intestine, and kidneys. He was compound heterozygous for CENPF p.(Glu298Ter), and a 5323 bp deletion covering exon 1. CENPF exon 1 is flanked by repetitive sequences that may represent a site of a recurrent structural variation, which should be a focus in patients with Strømme syndrome of unknown etiology. Full article

An 8-week feeding trial was conducted to investigate the effects of dietary protein levels on growth performance, feed utilization, and energy retention of juvenile dotted gizzard shad Konosirus punctatus based on the variation of fish meal. Fish meal was used as the sole protein source; five semi-purified diets were formulated with varying crude protein (CP) levels of 22.52%, 28.69%, 34.85%, 38.84%, 45.78% (CP1-CP5 diets). A total of 300 uniform juveniles with initial body weight 3.61 ± 0.20 g fish⁻¹ were randomly divided into five groups with three replicates in each group. The results showed that different CP levels did not significantly affect the survival of juvenile K. punctatus (p > 0.05). The values of weight gain (WG) and specific growth ratio (SGR) showed a general enhancing trend and then weakened with increasing dietary CP levels (p > 0.05). Feed utilization also improved with increasing dietary CP levels (p > 0.05), and the optimal feed conversion ratio (FCR) value was found in fish fed the diet with CP3 (p > 0.05). The rise of dietary CP from 22.52% to 45.78% enhanced the daily feed intake (DFI) and protein efficiency ratio (PER) values of K. punctatus (p < 0.05). With the increase of dietary CP levels, daily nitrogen intake (DNI), energy retention (ER), and lipid retention (LR) elevated, while retention (NR), daily energy intake (DEI), and daily lipid intake (DLI) reduced (p < 0.05). No statistical differences in the content of water, crude protein, and crude lipid were observed among different treatments (p > 0.05). The activity of lipase in CP3 and CP4 diets was significantly higher than that of the CP1 diet (p < 0.05). Fish fed CP2 and CP3 diets had significantly higher amylase activity than that of the CP5 diet (p < 0.05). The levels of alanine aminotransferase (GPT) first enhanced and then decreased as dietary CP levels raised. The second-order polynomial regression model analysis of the WG and FCR indicated that the optimal dietary protein level for K. punctatus is about 31.75–33.82% based on the variation of fish meal. Full article

Owing to a rapid increase in waste, waste management has become essential, for which waste generation (WG) information has been effectively utilized. Various studies have recently focused on the development of reliable predictive models by applying artificial intelligence to the construction and prediction of WG information. In this study, research was conducted on the development of machine learning (ML) models for predicting the demolition waste generation rate (DWGR) of buildings in redevelopment areas in South Korea. Various ML algorithms (i.e., artificial neural network (ANN), K-nearest neighbors (KNN), linear regression (LR), random forest (RF), and support vector machine (SVM)) were applied to the development of an optimal predictive model, and the main hyper parameters (HPs) for each algorithm were optimized. The results suggest that ANN-ReLu (coefficient of determination (R²) 0.900, the ratio of percent deviation (RPD) 3.16), SVM-polynomial (R² 0.889, RPD 3.00), and ANN-logistic (R² 0.883, RPD 2.92) are the best ML models for predicting the DWGR. They showed average errors of 7.3%, 7.4%, and 7.5%, respectively, compared to the average observed values, confirming the accurate predictive performance, and in the uncertainty analysis, the d-factor of the models appeared less than 1, showing that the presented models are reliable. Through a comparison with ML algorithms and HPs applied in previous related studies, the results herein also showed that the selection of various ML algorithms and HPs is important in developing optimal ML models for WG management. Full article

To determine the impact of replacing fish meal (FM) in the diet with various levels of soybean meal (SBM) on the spotted knifejaw Oplegnathus punctatus, a 56 day feeding trial was done. Seven diets were formulated with SBM to replace 0% (SBM0), 30% (SBM30), 40% (SBM40), 50% (SBM50), 60% (SBM60), and 70% (SBM70) of FM protein, and SBM50 + T was developed on the basis of SBM50 with the addition of 1.2% taurine. There were triplicate groups of 18 fish (initial weight: 14.62 ± 0.02 g). The weight gain (WG), specific growth rate (SGR), feed efficiency (FE), and protein efficiency ratio (PER) values of the SBM0, SBM30, and SBM50 + T groups were found to be significantly higher than those of the SBM60 and SBM70 groups (p < 0.05). The daily energy gain (DEG), daily nitrogen gain (DNG), daily lipid gain (DLG), energy retention (ER), nitrogen retention (NR), and lipid retention (LR) values decreased significantly with increasing dietary SBM levels (p < 0.05). The highest retention of most amino acids (except lysine) was observed in the SBM30 group (p < 0.05). The lipid content of the whole body and dorsal muscle decreased significantly as dietary SBM levels increased (p < 0.05). Fish fed the SBM70 diet had the lowest serum triglyceride (TG) concentrations (p < 0.05). The effects of different treatments on total cholesterol (T-CHO) were not significant (p > 0.05). Fish fed the SBM0 and SBM30 diets had the highest amylase (AMS) and lipase (LPS) activities (p < 0.05). The lowest liver superoxide dismutase (SOD) and catalase (CAT) activities were observed in the SBM70 group. The malondialdehyde (MDA) concentration of the SBM50 to SBM70 groups were significantly higher than that of other groups (p < 0.05). The levels of interleukin 8 (il-8) mRNA were highest in fish fed the SBM0, SBM30, and SBM50 + T diets (p < 0.05), while the level of transforming growth factor β1 (tgf-β1) was the opposite (p < 0.05). According to the broken line regression of WG and FE, the highest level of FM substitution by SBM for Oplegnathus punctatus was 24.07–25.31%. Full article