Search results for: autosomal recessive genetic disorder (ARGD)

Authors: Isao Tomita

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Electrical conduction in a quasi-one-dimensional polycrystalline metallic ring with a long electron phase coherence length realized at low temperature is investigated. In this situation, the wave nature of electrons is important in the ring, where the electrical current I can be induced by a vector potential that arises from a static magnetic field applied perpendicularly to the ring’s area. It is shown that if the average grain size of the polycrystalline ring becomes large (or comparable to the Fermi wavelength), the electrical current I increases to ~I0, where I0 is a current in a disorder-free ring. The cause of this increasing effect is examined, and this takes place if the electron localization length in the polycrystalline potential increases with increasing grain size, which gives rise to coherent connection of tails of a localized electron wave function in the ring and thus provides highly coherent electrical conduction.

Keywords: electrical conduction, electron phase coherence, polycrystalline metal, magnetic field

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Authors: Adel Bessadok

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The theory of values postulates that each human has a set of values, or attractive and trans-situational goals, that drive their actions. The Basic Human Values as an incentive construct that apprehends human's values have been shown to govern a wide range of human behaviors. Individuals within and within societies have very different value preferences that reflect their enculturation, their personal experiences, their social places and their genetic heritage. Using a focus group composed by Islamic religious Preachers and a sample of 800 young students; this ongoing study will establish Moderate Islamic Values parameters. We analyze later, for the same students sample the difference between Moderate Islamic Values and Schwartz’s Basic Human Values. Keywords—Moderate Islamic Values, Basic Human Values, Exploratory Factor Analysis and Confirmatory Factor Analysis.

Keywords: moderate Islamic values, basic human values, exploratory factor analysis, confirmatory factor analysis

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Authors: K. Menad, A. Feddag, M. A. Hassnaoui

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We are living in a time and in a world heavily polluted. In the list of the great dangers awaiting the man can be placed on top of the list pollution by heavy metals: lead, mercury, cadmium, etc. Fatigue, Depression, Thyroid disorder, Alzheimer's, Parkinson's, Cancer, are some of the health problems caused by heavy metal pollution. The environmental protection has long since become a major political and economic issue. Among the priorities, include safeguarding water resources. All countries of the world are concerned either because they lack water or because they pollute it. There are several ways to remove these heavy metals; ion exchange by zeolites is one of these ways, which our work is based on. Zeolites were among the main clean up materials by either adsorption, ion exchange and catalysis. Lead and cadmium, heavy metals, is one of the main dangers fulminate the flora and fauna of our small planet, so many resources are deployed to remedy them. The elimination of lead and cadmium by ion exchange has been extensively studied. However, exchange capacity of more and larger formed a major challenge for researchers and industry.

Keywords: composite, ion excahnge, zeolite LTA, zeolite x

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Authors: Adamu Usman, Grace Stanley Balami

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Pearl millet (Pennisetum glaucum L. R. Br.) is a cereal cultivated in arid and semi-arid areas of the world. It supports more than 100 million people around the world. Parasitic weed (Striga hermonthica Del. Benth) is a major constraint to its production. Estimated yield losses are put at 10 - 95% depending on variety, ecology and cultural practices. Potentials in selection of traits in pearl millets for grain yield have been reported and it depends on genotypic variability and heritability among landraces. Variability and heritability among cultivars could offer opportunities for improvement. The study was conducted to determine the genetic variability among cultivars and estimate broad sense heritability among grain yield and related traits. F1 breeding populations were generated with 9 parental cultivars, viz; Ex-Gubio, Ex-Monguno, Ex-Baga as males and PEO 5984, Super-SOSAT, SOSAT-C88, Ex-Borno and LCIC9702 as females through Line × Tester mating during 2017 dry season at Lushi Irrigation Station, Bauchi Metropolitan in Bauchi State, Nigeria. The F1 population and the parents were evaluated during cropping season of 2018 at Bauchi and Maiduguri. Data collected were subjected to analysis of variance. Results showed significant difference among cultivars and among traits indicating variability. Number of plants at emergence, days to 50% flowering, days to 100% flowering, plant height, panicle length, number of plants at harvest, Striga count at 90 days after sowing, panicle weight and grain yield were significantly different. Significant variability offer opportunity for improvement as superior individuals can be isolated. Genotypic variance estimates of traits were largely greater than environmental variances except in plant height and 1000 seed weight. Environmental variances were low and in some cases negligible. The phenotypic variances of all traits were higher than genotypic variances. Similarly phenotypic coefficient of variation (PCV) was higher than genotypic coefficient of variation (GCV). High heritability was found in days to 50% flowering (90.27%), Striga count at 90 days after sowing (90.07%), number of plants at harvest (87.97%), days to 100% flowering (83.89%), number of plants at emergence (82.19%) and plant height (73.18%). Greater heritability estimates could be due to presence of additive gene. The result revealed wider variability among genotypes and traits. Traits having high heritability could easily respond to selection. High value of GCV, PCV and heritability estimates indicate that selection for these traits are possible and could be effective.

Keywords: variability, heritability, phenotypic, genotypic, striga

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Authors: Zhenyu Zhang, Hsi-Hsien Wei

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Highway networks play a vital role in post-disaster recovery for disaster-damaged areas. Damaged bridges in such networks can disrupt the recovery activities by impeding the transportation of people, cargo, and reconstruction resources. Therefore, rapid restoration of damaged bridges is of paramount importance to long-term disaster recovery. In the post-disaster recovery phase, the key to restoration scheduling for a highway network is prioritization of bridge-repair tasks. Resilience is widely used as a measure of the ability to recover with which a network can return to its pre-disaster level of functionality. In practice, highways will be temporarily blocked during the downtime of bridge restoration, leading to the decrease of highway-network functionality. The failure to take downtime effects into account can lead to overestimation of network resilience. Additionally, post-disaster recovery of highway networks is generally divided into emergency bridge repair (EBR) in the response phase and long-term bridge repair (LBR) in the recovery phase, and both of EBR and LBR are different in terms of restoration objectives, restoration duration, budget, etc. Distinguish these two phases are important to precisely quantify highway network resilience and generate suitable restoration schedules for highway networks in the recovery phase. To address the above issues, this study proposes a novel resilience quantification method for the optimization of long-term bridge repair schedules (LBRS) taking into account the impact of EBR activities and restoration downtime on a highway network’s functionality. A time-dependent integer program with recursive functions is formulated for optimally scheduling LBR activities. Moreover, since uncertainty always exists in the LBRS problem, this paper extends the optimization model from the deterministic case to the stochastic case. A hybrid genetic algorithm that integrates a heuristic approach into a traditional genetic algorithm to accelerate the evolution process is developed. The proposed methods are tested using data from the 2008 Wenchuan earthquake, based on a regional highway network in Sichuan, China, consisting of 168 highway bridges on 36 highways connecting 25 cities/towns. The results show that, in this case, neglecting the bridge restoration downtime can lead to approximately 15% overestimation of highway network resilience. Moreover, accounting for the impact of EBR on network functionality can help to generate a more specific and reasonable LBRS. The theoretical and practical values are as follows. First, the proposed network recovery curve contributes to comprehensive quantification of highway network resilience by accounting for the impact of both restoration downtime and EBR activities on the recovery curves. Moreover, this study can improve the highway network resilience from the organizational dimension by providing bridge managers with optimal LBR strategies.

Keywords: disaster management, highway network, long-term bridge repair schedule, resilience, restoration downtime

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Authors: Charlotte K. Lee, Henrique R. N. Aguiar, Ralph Smith, James Baldock, Sam Botchey

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Background: Femoral neck stress fractures (FNSF) are uncommon, making up 1 to 7.2% of stress fractures in healthy subjects. FNSFs are prevalent in young women, military recruits, endurance athletes, and individuals with energy deficiency syndrome or female athlete triad. Presentation is often non-specific and is often misdiagnosed following the initial examination. There is limited research addressing the return–to–activity time after FNSF. Previous studies have demonstrated prognostic time predictions based on various imaging techniques. Here, (1) OxSport clinic FNSF practice standards are retrospectively reviewed, (2) FNSF cohort demographics are examined, (3) Regression models were used to predict return–to–activity prognosis and consequently determine bone stress risk factors. Methods: Patients with a diagnosis of FNSF attending Oxsport clinic between 01/06/2020 and 01/01/2020 were selected from the Rheumatology Assessment Database Innovation in Oxford (RhADiOn) and OxSport Stress Fracture Database (n = 14). (1) Clinical practice was audited against five criteria based on local and National Institute for Health Care Excellence guidance, with a 100% standard. (2) Demographics of the FNSF cohort were examined with Student’s T-Test. (3) Lastly, linear regression and Random Forest regression models were used on this patient cohort to predict return–to–activity time. Consequently, an analysis of feature importance was conducted after fitting each model. Results: OxSport clinical practice met standard (100%) in 3/5 criteria. The criteria not met were patient waiting times and documentation of all bone stress risk factors. Importantly, analysis of patient demographics showed that of the population with complete bone stress risk factor assessments, 53% were positive for modifiable bone stress risk factors. Lastly, linear regression analysis was utilized to identify demographic factors that predicted return–to–activity time [R2 = 79.172%; average error 0.226]. This analysis identified four key variables that predicted return-to-activity time: vitamin D level, total hip DEXA T value, femoral neck DEXA T value, and history of an eating disorder/disordered eating. Furthermore, random forest regression models were employed for this task [R2 = 97.805%; average error 0.024]. Analysis of the importance of each feature again identified a set of 4 variables, 3 of which matched with the linear regression analysis (vitamin D level, total hip DEXA T value, and femoral neck DEXA T value) and the fourth: age. Conclusion: OxSport clinical practice could be improved by more comprehensively evaluating bone stress risk factors. The importance of this evaluation is demonstrated by the population found positive for these risk factors. Using this cohort, potential bone stress risk factors that significantly impacted return-to-activity prognosis were predicted using regression models.

Keywords: eating disorder, bone stress risk factor, femoral neck stress fracture, vitamin D

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Authors: Dali Gaganidze, Ekaterine Abashidze

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Potato is one of the main agricultural crops in Georgia. Georgia produces early and late potato varieties in almost all regions. In traditional potato growing regions (Svaneti, Samckhet javaheti and Tsalka), the yield is higher than 30-35 t/ha. Among the plant pests that limit potato production and quality, the potato cyst nematodes (PCN) are harmful around the world. Yield losses caused by PCN are estimated up to 30%. Rout surveys conducted in two geographically distinct regions of Georgia producing potatoes - Samtskhe - Javakheti and Svaneti revealed potato cyst nematode Globodera rostochiensi. The aim of the study was the Phylogenetic analyses of Globodera rostochiensi revealed in Georgia by the amplification and sequencing of 28S gen in the D3 region and intergenic ITS1-15.8S-ITS2 region. Identification of all the samples from the two Globodera populations (Samtskhe - Javakheti and Svaneti), i.e., G. rostochiensis (20 isolates) were confirmed by conventional multiplex PCR with ITS 5 universal and PITSp4, PITSr3 specific primers of the cyst nematodes’ (G. pallida, G. rostochiensis). The size of PCR fragment 434 bp confirms that PCN samples from two populations, Samtskhe- Javakheti and Svaneti, belong to G. rostochiensi . The ITS1–5.8S-ITS2 regions were amplified using prime pairs: rDNA1 ( 5’ -TTGATTACGTCCCTGCCCTTT-3’ and rDNA2( 5’ TTTCACTCGCCGTTACTAAGG-3’), D3 expansion regions were amplified using primer pairs: D3A (5’ GACCCCTCTTGAAACACGGA-3’) and D3B (5’-TCGGAAGGAACCAGCTACTA-3’. PCR products of each region were cleaned up and sequenced using an ABI 3500xL Genetic Analyzer. Obtained sequencing results were analyzed by computer program BLASTN (https://blast.ncbi.nlm.nih.gov/Blast.cg). Phylogenetic analyses to resolve the relationships between the isolates were conducted in MEGA7 using both distance- and character-based methods. Based on analysis of G.rostochiensis isolate`s D3 expansion regions are grouped in three major clades (A, B and C) on the phylogenetic tree. Clade A is divided into three subclades; clade C is divided into two subclades. Isolates from the Samtckhet-javakheti population are in subclade 1 of clade A and isolates in subclade 1 of clade C. Isolates) from Svaneti populations are in subclade 2 of clade A and in clad B. In Clade C, subclade two is presented by three isolates from Svaneti and by one isolate (GL17) from Samckhet-Javakheti. . Based on analysis of G.rostochiensis isolate`s ITS1–5.8S-ITS2 regions are grouped in two main clades, the first contained 20 Georgian isolates of Globodera rostochiensis from Svaneti . The second clade contained 15 isolates of Globodera rostochiensis from Samckhet javakheti. Our investigation showed of high genetic variation of D3 and ITS1–5.8S-ITS2 region of rDNA of the isolates of G. rostochiensis from different geographic origins (Svameti, Samckhet-Javakheti) of Georgia. Acknowledgement: The research has been supported by the Shota Rustaveli National Scientific Foundation of Georgia : Project # FR17_235

Keywords: globodera rostochiensi, PCR, phylogenetic tree, sequencing

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Authors: Baye Berihun Getahun, Mulugeta Atnaf Tiruneh, Richard G. F. Visser

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Resource-poor farmers practice low-input farming systems, and yet, most breeding programs give less attention to this huge farming system, which serves as a source of food and income for several people in developing countries. The high-input conventional breeding system appears to have failed to adequately meet the needs and requirements of 'difficult' environments operating under this system. Moreover, the unavailability of resources for crop production is getting for their peaks, the environment is maltreated by excessive use of agrochemicals, crop productivity reaches its plateau stage, particularly in the developed nations, the world population is increasing, and food shortage sustained to persist for poor societies. In various parts of the world, genetic gain at the farmers' level remains low which could be associated with low adoption of crop varieties, which have been developed under high input systems. Farmers usually use their local varieties and apply minimum inputs as a risk-avoiding and cost-minimizing strategy. This evidence indicates that the conventional high-input plant breeding system has failed to feed the world population, and the world is moving further away from the United Nations' goals of ending hunger, food insecurity, and malnutrition. In this review, we discussed the rationality of focused breeding programs for low-input farming systems and, the technical aspect of crop breeding that accommodates future food needs and its significance for developing countries in the decreasing scenario of resources required for crop production. To this end, the application of exotic introgression techniques like polyploidization, pan-genomics, comparative genomics, and De novo domestication as a pre-breeding technique has been discussed in the review to exploit the untapped genetic diversity of the crop wild relatives (CWRs). Desired recombinants developed at the pre-breeding stage are exploited through appropriate breeding approaches such as evolutionary plant breeding (EPB), rhizosphere-related traits breeding, and participatory plant breeding approaches. Populations advanced through evolutionary breeding like composite cross populations (CCPs) and rhizosphere-associated traits breeding approach that provides opportunities for improving abiotic and biotic soil stress, nutrient acquisition capacity, and crop microbe interaction in improved varieties have been reviewed. Overall, we conclude that low input farming system is a huge farming system that requires distinctive breeding approaches, and the exotic pre-breeding introgression techniques and the appropriate breeding approaches which deploy the skills and knowledge of both breeders and farmers are vital to develop heterogeneous landrace populations, which are effective for farmers practicing low input farming across the world.

Keywords: low input farming, evolutionary plant breeding, composite cross population, participatory plant breeding

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Authors: Huang Xiaoling, Liu Lufeng

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In this paper, we seek to determine one reasonable local hub port and optimal routes for a containership fleet, performing pick-ups and deliveries, between the hub and spoke ports in a same region. The relationship between a hub port, and traffic in feeder lines is analyzed. A new network planning method is proposed, an integrated hub port location and route design, a capacitated vehicle routing problem with pick-ups, deliveries and time deadlines are formulated and solved using an improved genetic algorithm for positioning the hub port and establishing routes for a containership fleet. Results on the performance of the algorithm and the feasibility of the approach show that a relatively small fleet of containerships could provide efficient services within deadlines.

Keywords: route planning, hub port location, container feeder service, regional transportation network

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Authors: Sarah Elshahat, Tina Moffat

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Suboptimal mental health is a considerable global public health challenge that leads to considerable inequalities worldwide. Newcomers are at elevated risk for developing mental health issues as a result of social exclusion, stigmatization, racism, unequal employment opportunities, and discrimination. The problem can be especially serious amongst Arabic-speaking immigrants and refugees (ASIR) whose mental wellness may have already been affected by exposure to political violence, persecution, hunger or war in their countries of origin. A scoping review was conducted to investigate pre- and post-migration mental health determinants amongst ASIR in North America (the U.S. and Canada), who are a rapidly growing population in both regions. Pertinent peer-reviewed papers and grey literature were located through a systematic search of five electronic databases (Medline, Embase, PsycINFO, Anthropology Plus, and Sociology Database). A stakeholder consultation was implemented to validate the analyzed findings of the included 44 studies. About 80% of the studies were carried out in the US, underscoring a lack of Canadian ASIR-mental health research. A gap in qualitative, mixed-method, and longitudinal research was detected, where approximately two-thirds of the studies adopted a cross-sectional method. Pre-migration determinants of mental health were related to the political unrest, violence and armed conflict in the Arab world, increasing post-traumatic stress disorder and psychological distress levels among ASIR. English language illiteracy and generational variations in acculturation patterns were major post-migration mental health triggering factors. Exposure to domestic violence, stigmatization, poverty, racialization, and harassment were significant post-migration mental health determinants that stem from social inequalities, triggering depression, and distress amongst ASIR. Family conflicts linked to child-rearing and gendered norms were considered as both pre- and post-migration mental health triggering factors. Most post-migration mental health protective factors were socio-culturally related and included the maintenance of positive ethnic identity, faith, family support, and community cohesion. Individual resilience, articulated as self-esteem and hope, was a significant negative predictor of depression and psychological distress among ASIR. Community-engaged, mixed-methods, and longitudinal studies are required to address the current gap in mental health research among ASIR in North America. A more thorough determination of potential mental health triggers and protective factors would help inform the development of mental wellness and resilience-promoting programs that are culturally sensitive to ASIR. On the policy level, the Health in All Policies framework of the World Health Organization can be potentially useful for addressing social and health inequalities among ASIR, reducing mental health challenges.

Keywords: depression, post-traumatic stress disorder, psychological distress, resilience

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Authors: Ayse Ozge Demir, Nihat Mert

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In this research, Kilis and Honamli goats are used, which are specific local genetic resources of Turkey. The herds were independent, but they had similar care and nutrition circumstances. From each breed 30 samples were taken, in all 120 samples were collected. Erytrocyte, all blood and serum samples were used for hemoglobine (Hb), glutathione (GSH) and Tf with Cp analysis, respectively. In the analysis of this samples, Hb and Tf bands were determined by electrophoresis. However, Cp and GSH levels were analyzed by the spectrophotometer. Three Hb phenotypes (AA, BB, AB) and Six Tf phenotypes (AA, AB, AC, BB, BC, CC) were determined in this study. In addition, both the observed and the expected values of polymorphic characteristic for 2 characters were presented according to the Hardy-Weinberg Equilibrium (HWE). Cp levels were detected as 0.822 ± 0.055 mg/dl and 1.793 ± 0.109 mg/dl in Kilis and Honamli herds, respectively. GSH levels were detected as, 42,486 ± 1,034 mg/dl and 33.515 ± 0.345 mg/dl in these breeds, respectively,. On the other hand, the high and low GSH levels (GSHH and GSHh) of herds were presented.

Keywords: electrophoresis, gene resource, goat, spectrophotometer

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Authors: Omar Dib, Alexandre Caminada, Marie-Ange Manier

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The purpose of this study is to introduce a novel approach to solve the one-to-one shortest path problem. A directed connected graph is assumed in which all edges’ weights are positive. Our method is based on a memetic algorithm in which we combine a genetic algorithm (GA) and a variable neighborhood search method (VNS). We compare our approximate method with two exact algorithms Dijkstra and Integer Programming (IP). We made experimentations using random generated, complete and real graph instances. In most case studies, numerical results show that our method outperforms exact methods with 5% average gap to the optimality. Our algorithm’s average speed is 20-times faster than Dijkstra and more than 1000-times compared to IP. The details of the experimental results are also discussed and presented in the paper.

Keywords: shortest path problem, Dijkstra’s algorithm, integer programming, memetic algorithm

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Authors: Leonard Lipovich, Pattaraporn Thepsuwan, Anton-Scott Goustin, Juan Cai, Donghong Ju, James B. Brown

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Two-thirds of human genes do not encode any known proteins. Aside from long non-coding RNA (lncRNA) genes with recently-discovered functions, the ~40,000 non-protein-coding human genes remain poorly understood, and a role for their transcripts as de-facto unconventional messenger RNAs has not been formally excluded. Ribosome profiling (Riboseq) predicts translational potential, but without independent evidence of proteins from lncRNA open reading frames (ORFs), ribosome binding of lncRNAs does not prove translation. Previously, we mass-spectrometrically documented translation of specific lncRNAs in human K562 and GM12878 cells. We now examined lncRNA translation in human MCF7 cells, integrating strand-specific Illumina RNAseq, Riboseq, and deep mass spectrometry in biological quadruplicates performed at two core facilities (BGI, China; City of Hope, USA). We excluded known-protein matches. UCSC Genome Browser-assisted manual annotation of imperfect (tryptic-digest-peptides)-to-(lncRNA-three-frame-translations) alignments revealed three peptides hypothetically explicable by 'stop-to-nonstop' in-frame replacement of stop codons by amino acids in two ORFs of the lncRNA MMP24-AS1. To search for this phenomenon genomewide, we designed and implemented a novel pipeline, matching tryptic-digest spectra to wildcard-instead-of-stop versions of repeat-masked, six-frame, whole-genome translations. Along with singleton putative stop-to-nonstop events affecting four other lncRNAs, we identified 24 additional peptides with stop-to-nonstop in-frame substitutions from multiple positive-strand MMP24-AS1 ORFs. Only UAG and UGA, never UAA, stop codons were impacted. All MMP24-AS1-matching spectra met the same significance thresholds as high-confidence known-protein signatures. Targeted resequencing of MMP24-AS1 genomic DNA and cDNA from the same samples did not reveal any mutations, polymorphisms, or sequencing-detectable RNA editing. This unprecedented apparent gene-specific violation of the genetic code highlights the importance of matching peptides to whole-genome, not known-genes-only, ORFs in mass-spectrometry workflows, and suggests a new mechanism enhancing the combinatorial complexity of the proteome. Funding: NIH Director’s New Innovator Award 1DP2-CA196375 to LL.

Keywords: genetic code, lncRNA, long non-coding RNA, mass spectrometry, proteogenomics, ribo-seq, ribosome, RNAseq

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Authors: Natalia Buderatskaya, Igor Ilyin, Julia Gontar, Sergey Lavrynenko, Olga Parnitskaya, Ekaterina Ilyina, Eduard Kapustin, Yana Lakhno

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Introduction: It is known that cryopreservation of oocytes has peculiar features due to the complex structure of the oocyte. One of the most important features is that mature oocytes contain meiotic division spindle which is very sensitive even to the slightest variation in temperature. Thus, the main objective of this study is to analyse the resulting euploid embryos obtained from thawed oocytes in comparison with the data of preimplantation genetic screening (PGS) in fresh embryo cycles. Material and Methods: The study was conducted at 'Medical Centre IGR' from January to July 2016. Data were analysed for 908 donor oocytes obtained in 67 cycles of assisted reproductive technologies (ART), of which 693 oocytes were used in the 51 'fresh' cycles (group A), and 215 oocytes - 16 ART programs with vitrification female gametes (group B). The average age of donors in the groups match 27.3±2.9 and 27.8±6.6 years. Stimulation of superovulation was conducted the standard way. Vitrification was performed in 1-2 hours after transvaginal puncture and thawing of oocytes were carried out in accordance with the standard protocol of Cryotech (Japan). Manipulation ICSI was performed 4-5 hours after transvaginal follicle puncture for fresh oocytes, or after defrosting - for vitrified female gametes. For the PGS, an embryonic biopsy was done on the third or on the fifth day after fertilization. Diagnostic procedures were performed using fluorescence in situ hybridization with the study of such chromosomes as 13, 16, 18, 21, 22, X, Y. Only morphologically quality blastocysts were used for the transfer, the estimation of which corresponded to the Gardner criteria. The statistical hypotheses were done using the criteria t, x^2 at a significance levels p<0.05, p<0.01, p<0.001. Results: The mean number of mature oocytes per cycle in group A was 13.58±6.65 and in group B - 13.44±6.68 oocytes for patient. The survival of oocytes after thawing totaled 95.3% (n=205), which indicates a highly effective quality of performed vitrification. The proportion of zygotes in the group A corresponded to 91.1%(n=631), in the group B – 80.5%(n=165), which shows statistically significant difference between the groups (p<0.001) and explained by non-viable oocytes elimination after vitrification. This is confirmed by the fact that on the fifth day of embryos development a statistically significant difference in the number of blastocysts was absent (p>0.05), and constituted respectively 61.6%(n=389) and 63.0%(n=104) in the groups. For the PGS performing 250 embryos analyzed in the group A and 72 embryos - in the group B. The results showed that euploidy in the studied chromosomes were 40.0%(n=100) embryos in the group A and 41.7% (n=30) - in the group B, which shows no statistical significant difference (p>0.05). The indicators of clinical pregnancies in the groups amounted to 64.7% (22 pregnancies per 34 embryo transfers) and 61.5% (8 pregnancies per 13 embryo transfers) respectively, and also had no significant difference between the groups (p>0.05). Conclusions: The results showed that the vitrification does not affect the resulting euploid embryos in assisted reproductive technologies and are not reflected in their morphological characteristics in ART programs.

Keywords: euploid embryos, preimplantation genetic screening, thawing oocytes, vitrification

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Authors: Sandy Elsayed, Aya Mohamed, Noha Nassar

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Introduction: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social deficits and repetitive behavior. Multiple studies suggest that oxidative stress and neuroinflammation are key factors in the etiology of ASD and often associated with worsening of ASD-related behaviors. Nuclear factor erythroid 2-related factor 2 (NRF-2) is a transcription factor that promotes expression of antioxidant response element genes in oxidative stress. In ASD subjects, decreased expression of NRF-2 in frontal cortex shifted the redox homeostasis towards oxidative stress, and resulted in inflammation evidenced by elevation of nuclear factor kappa B (NF-κB) transcriptional activity. Dimethyl fumarate (DMF) is a NRF-2 activator that is used in the treatment of psoriasis and multiple sclerosis. It participates in the transcriptional control of inflammatory factors via inhibition of NF-κB and its downstream targets. This study aimed to investigate the role of DMF in alleviating the cognitive impairments and behavior deficits associated with ASD through mitigation of oxidative stress and inflammation in prenatal valproic acid (VPA) rat model of autism. Methods: Pregnant female Wistar rats received a single intraperitoneal injection of VPA (600 mg/kg) to induce autistic-like-behavioral and neurobiological alterations in their offspring. Chronic oral gavage of DMF (150mg/kg/day) started from postnatal day (PND) 24 till PND62 (39 days). Prenatal VPA exposure elicited autistic behaviors including decreased social interaction and stereotyped behavior. Social interaction was evaluated using three-chamber sociability test and calculation of sociability index (SI), while stereotyped repetitive behavior and anxiety associated with ASD were assessed using marble burying test (MBT). Biochemical analyses were done on prefrontal cortex homogenates including NRF-2, and NF-κB expression. Moreover, inducible nitric oxide synthase (iNOS) gene expression and tumor necrosis factor (TNF-) protein expression were evaluated as markers of inflammation. Results: Prenatal VPA elicited decreased social interaction shown by decreased SI compared to control group (p < 0.001) and DMF enhanced SI (p < 0.05). In MBT, prenatal injection of VPA manifested stereotyped behavior and enhanced number of buried marbles compared to control (p < 0.05) and DMF reduced the anxiety-related behavior in rats exhibiting ASD-like behaviors (p < 0.05). In prefrontal cortex, NRF-2 expression was downregulated in prenatal VPA model (p < 0.0001) and DMF reversed this effect (p < 0.0001). The inflammatory transcription factor NF-κB was elevated in prenatal VPA model (p < 0.0001) and reduced (p < 0.0001) upon NRF-2 activation by DMF. Prenatal VPA expressed higher levels of proinflammatory cytokine TNF- compared to control group (p < 0.0001) and DMF reduced it (p < 0.0001). Finally, the gene expression of iNOS was downregulated upon NRF-2 activation by DMF (p < 0.01). Conclusion: This study proposes that DMF is a potential agent that can be used to ameliorate autistic-like-changes through NRF-2 activation along with NF-κB downregulation and therefore, it is a promising novel therapy for ASD.

Keywords: autism spectrum disorders, dimethyl fumarate, neuroinflammation, NRF-2

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Authors: Chih-Fong Tsai, Ya-Han Hu

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The aim of feature selection (or dimensionality reduction) is to filter out unrepresentative features (or variables) making the classifier perform better than the one without feature selection. Since there are many well-known feature selection algorithms, and different classifiers based on different selection results may perform differently, very few studies consider examining the effect of performing different feature selection algorithms on the classification performances by different classifiers over different types of datasets. In this paper, two widely used algorithms, which are the genetic algorithm (GA) and information gain (IG), are used to perform feature selection. On the other hand, three well-known classifiers are constructed, which are the CART decision tree (DT), multi-layer perceptron (MLP) neural network, and support vector machine (SVM). Based on 14 different types of datasets, the experimental results show that in most cases IG is a better feature selection algorithm than GA. In addition, the combinations of IG with DT and IG with SVM perform best and second best for small and large scale datasets.

Keywords: data mining, feature selection, pattern classification, dimensionality reduction

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Authors: Benito Minjarez, Jesse Haramati, Yury Rodriguez-Yanez, Florencio Recendiz-Hurtado, Juan-Pedro Luna-Arias, Salvador Mena-Munguia

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During the last decades, the world has experienced a rapid industrialization and an expanding economy favoring a demographic boom. As a consequence, countries around the world have focused on developing new strategies related to the production of different farm products in order to meet future demands. Consequently, different strategies have been developed seeking to improve the major food products for both humans and livestock. Corn, after wheat and rice, is the third most important crop globally and is the primary food source for both humans and livestock in many regions around the globe. In addition, maize (Zea mays) is an important source of protein accounting for up to 60% of the daily human protein supply. Generally, many of the cereal grains have proteins with relatively low nutritional value, when they are compared with proteins from meat. In the case of corn, much of the protein is found in the endosperm (75 to 85%) and is deficient in two essential amino acids, lysine, and tryptophan. This deficiency results in an imbalance of amino acids and low protein content; normal maize varieties have less than half of the recommended amino acids for human nutrition. In addition, studies have shown that this deficiency has been associated with symptoms of growth impairment, anemia, hypoproteinemia, and fatty liver. Due to the fact that most of the presently available maize varieties do not contain the quality and quantity of proteins necessary for a balanced diet, different countries have focused on the research of quality protein maize (QPM). Researchers have characterized QPM noting that these varieties may contain between 70 to 100% more residues of the amino acids essential for animal and human nutrition, lysine, and tryptophan, than common corn. Several countries in Africa, Latin America, as well as China, have incorporated QPM in their agricultural development plan. Large parts of these countries have chosen a specific QPM variety based on their local needs and climate. Reviews have described the breeding methods of maize and have revealed the lack of studies on genetic and proteomic diversity of proteins in QPM varieties, and their genetic relationships with normal maize varieties. Therefore, molecular marker identification using tools such as mass spectrometry may accelerate the selection of plants that carry the desired proteins with high lysine and tryptophan concentration. To date, QPM maize lines have played a very important role in alleviating the malnutrition, and better characterization of these lines would provide a valuable nutritional enhancement for use in the resource-poor regions of the world. Thus, the objectives of this study were to identify proteins in QPM maize in comparison with a common maize line as a control.

Keywords: corn, mass spectrometry, QPM, tryptophan

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Authors: Neelamshobha Nirala, R. Periyasamy, Awanish Kumar

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Diabetes is a metabolic disorder and with the increase of global prevalence of diabetes, cardiovascular diseases and mortality related to diabetes has also increased. Diabetes causes the increase of arterial stiffness by elusive hormonal and metabolic abnormalities. We used photoplethysmograph (PPG), a simple non-invasive method to study the change in arterial stiffness due to diabetes. Toe PPG signals were taken from 29 diabetic subjects with mean age of (65±8.4) years and 21 non-diabetic subjects of mean age of (49±14) years. Mean duration of diabetes is 12±8 years for diabetic group. Rise-time (RT) and area under rise time (AUR) were calculated from the PPG signal of each subject and Welch’s t-test is used to find the significant difference between two groups. We obtained a significant difference of (p-value) 0.0005 and 0.03 for RT and AUR respectively between diabetic and non-diabetic subjects. Average value of RT and AUR is 0.298±0.003 msec and 14.4±4.2 arbitrary units respectively for diabetic subject compared to 0.277±0.0005 msec and 13.66±2.3 a.u respectively for non-diabetic subjects. In conclusion, this study support that arterial stiffness is increased in diabetes and can be detected early using PPG.

Keywords: area under rise-time, AUR, arterial stiffness, diabetes, photoplethysmograph, PPG, rise-time (RT)

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Authors: Eki Devung, Eka Tyastutik, Indha Annisa, Digdaya Anoraga, Jamaluddin Arsyad

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Plant medicine is a whole species of plants are known to have medicinal properties. Bogor Agricultural University has high biodiversity, one of which flora potential as a drug. This study was conducted from 19 September to 10 October 2016 at Bogor Agricultural University using literature study and field observation. There are 85 species of medicinal plants which include a medicinal plant cultivation and wild plants. Family herbs most commonly found in Cikabayan that while the Euphorbiaceae, family which is found in the Tropical Medicinal Plant Conservation Laboratory is the family of Achantaceae. Species of medicinal plants is dominated by herbs and shrubs. Part herbs most widely used are the leaves. The diversity of diseases that can be treated with medicine plants include digestive system diseases and metabolic disorder.

Keywords: benefits, biodiversity, Bogor Agricultural University, medicinal plants

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Authors: Arshad Mehmood Ch, Riaz Ahmad, Imran Ali Ch, Waqas Durrani

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This study deals with the application of Ant Colony Optimization (ACO) approach to solve no-wait flowshop scheduling problem (NW-FSSP). ACO algorithm so developed has been coded on Matlab computer application. The paper covers detailed steps to apply ACO and focuses on judging the strength of ACO in relation to other solution techniques previously applied to solve no-wait flowshop problem. The general purpose approach was able to find reasonably accurate solutions for almost all the problems under consideration and was able to handle a fairly large spectrum of problems with far reduced CPU effort. Careful scrutiny of the results reveals that the algorithm presented results better than other approaches like Genetic algorithm and Tabu Search heuristics etc; earlier applied to solve NW-FSSP data sets.

Keywords: no-wait, flowshop, scheduling, ant colony optimization (ACO), makespan

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Authors: Tareq L. Mukattash, Karem H. Alzoubi, Ejlal Abu El-Rub, Anan S. Jarab, Sayyer I. Al-Azzam, Maher Khdour, Mohammed Shara, Yazid N. Alhamarneh

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Background: It has been estimated that up to 50% of any patient population is at least partially non-adherent to their prescribed treatment. Identifying barriers to adherence is required to develop effective interventions for psychiatric patients. Objective: To explore the prevalence and factors of non-adherence among psychiatric patients present at four psychiatric clinics. Method: A cross-sectional questionnaire-based study. A sample of psychiatric patients attending outpatient psychiatric clinics was enrolled between March and April 2011. Results: A total of 243 psychiatric patients took part in this study with the majority of patients (92.5%) being prescribed more than one psychiatric disorder. The majority (64.2%) of the patients was classified as non-adherent according to the Morisky adherence questionnaire and forgetfulness was the most prevalent reason for that. Conclusions: Non-adherence is a common and important issue among psychiatric patients. Polypharmacy, safety concerns and lack of insight towards the prescribed treatment were reported as the main reasons of non-adherence.

Keywords: medication adherence, psychiatric disorders, clinical pharmacy, polypharmacy

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Authors: Charu Kriti

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The year 2020 will be remembered in history as the year when everything changed suddenly. As the world is engrossed in fighting a pandemic, individual life has taken a hit. The sudden imposition of lockdown, the perpetual fear of testing positive for the COVID virus, and rescheduling one’s entire life around this one global phenomenon have created unprecedented stress among all cadres. This paper aims to highlight the level of stress that students face during the shift of the classroom from the physical setup to the virtual one. The paper takes into account the day-to-day hassles that a student faces during online classes. The paper also attempts to analyse these from the other perspective of the students’ lives and the difficulties faced by them on all fronts. This is an empirical research paper that takes into account responses from a total of 4,241 students. The responses have been collected via the online survey, which is being assessed and inferred for the purposes of this paper. The final results show the extent of stress that online classes have induced upon the students.

Keywords: anxiety, COVID, stress, anxiety disorder

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Authors: Fuming Yang, Telma Sousa Almeida, Xinyu Li, Yunxi Deng, Heying Zhang, Michael E. Lamb

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Twenty-seven children aged 6-15 years with autism spectrum disorder (ASD) and 32 typically developing children were questioned about their participation in a set of activities after a two-week delay and again after a two-month delay, using a best-practice interview protocol. This paper assessed the narrative coherence of children’s reports based on key story grammar elements and temporal features included in their accounts of the event. Results indicated that, over time, both children with ASD and typically developing (TD) children decreased their narrative coherence. Children with ASD were no different from TD peers with regards to story length and syntactic complexity. However, they showed significantly less coherence than TD children. They were less likely to use the gist of the story to organize their narrative coherence. Interviewer prompts influenced children’s narrative coherence. The findings indicated that children with ASD could provide meaningful and reliable testimony about an event they personally experienced, but the narrative coherence of their reports deteriorates over time and is affected by interviewer prompts.

Keywords: autism spectrum disorders, delay, eyewitness testimony, narrative coherence

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Authors: Dimitrios Binas, Marianna Konidari, Charis Bourgioti, Lia Angela Moulopoulou, Theodore Economopoulos, George Matsopoulos

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High grade ovarian epithelial cancer (OEC) is fatal gynecological cancer and the poor prognosis of this entity is closely related to considerable intratumoral genetic heterogeneity. By examining imaging data, it is possible to assess the heterogeneity of tumorous tissue. This study proposes a methodology for aligning, segmenting and finally visualizing information from various magnetic resonance imaging series in order to construct 3D models of heterogeneity maps from the same tumor in OEC patients. The proposed system may be used as an adjunct digital tool by health professionals for personalized medicine, as it allows for an easy visual assessment of the heterogeneity of the examined tumor.

Keywords: image segmentation, ovarian epithelial cancer, quantitative characteristics, image registration, tumor visualization

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Authors: Adolfo Cangas, Noelia Navarro

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The current study shows the assessment made by university students of a video game entitled Stigma-Stop where the characters present different mental disorders. The objective is that players have more real information about mental disorders and empathize with them and thus reduce stigma. The sample consisted of 169 university students studying degrees related to education, social care and welfare (i.e., Social Education, Psychology, Early Childhood Education, Special Education, and Social Work). The participants valued the video game positively, especially in relation to utility, being somewhat lower the score awarded to the degree of entertainment. They detect the disorders and point out that in many occasions they felt the same (particularly in the case of depression, being lower in agoraphobia and bipolar disorder, and even lower in the case of schizophrenia), most students recommend the use of the video game. They emphasize that Stigma-Stop offers intervention strategies, information regarding the symptomatology and sensitizes against stigma.

Keywords: schizophrenia, social stigma, students, mental health

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Authors: Bongmun Kang, Kagnari Yamakawa, Yoshihisa Hagihara, Yuji Ito, Michimasa Kishimoto, Yoichi Kumada

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The PMMA-tag was genetically fused with the C-terminal region of VHH molecules. This antibody, VHH, is known as a single-chain domain, which is devoid of light chains. The PMMA-tag, which could affect the isoelectric point (pI) changeable with a charge of amino acid in VHHs were closely related to the solubility of VHH molecules during refolding. The genetic fusion of PMMA-tag to C-terminal region of VHHs significantly affects the recovery of their soluble protein during refolding by 50 mM TAPS at pH 8.5. It could be refolded with a recovery of more than 95% by dialysis at pH 8.5. A marked difference in the antigen-binding activities in the adsorption state was significantly high in VHH-PM compared to the wild type of VHH. There are approximately 8-fold differences in the antigen-binding activities in the adsorption state between VHH-PM and VHH.

Keywords: VHH, PMMA-tag, isoelectric point, pH, Solubility, refolding, immobilization, ELISA

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Authors: Amna Abdalla Mohammed Khalid, Pietro Parisse, Silvia Onesti, Loredana Casalis

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Basic cellular processes as DNA replication are crucial to cell life. Understanding at the molecular level the mechanisms that govern DNA replication in proliferating cells is fundamental to understand disease connected to genomic instabilities, as a genetic disease and cancer. A key step for DNA replication to take place, is unwinding the DNA double helix and this carried out by proteins called helicases. The archaeal MCM (minichromosome maintenance) complex from Methanothermobacter thermautotrophicus have being studied using Atomic Force Microscopy (AFM), imaging in air and liquid (Physiological environment). The accurate analysis of AFM topographic images allowed to understand the static conformations as well the interaction dynamic of MCM and DNA double helix in the present of ATP.

Keywords: DNA, protein-DNA interaction, MCM (mini chromosome manteinance) complex, atomic force microscopy (AFM)

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Authors: Deniz Dincel, Sena Ardicli, Hale Samli, Mustafa Ogan, Faruk Balci

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The aim of the study was to determine the effects of some environmental and genetic factors on growth, fertility traits, milk yield and composition in Saanen goats. For this purpose, the total of 173 Saanen goats and kids were investigated for growth, fertility and milk traits in Marmara Region of Turkey. Fertility parameters (n=70) were evaluated during two years. Milk samples were collected during the lactation and the milk yield/components (n=59) of each goat were calculated. In terms of CSN3 and AGPAT6 gene; the genotypes were defined by PCR-RFLP. Saanen kids (n=86-112) were measured from birth to 6 months of life. The birth, weaning, 60ᵗʰ, 90ᵗʰ, 120ᵗʰ and 180tᵗʰ days of average live weights were calculated. The effects of maternal age on pregnancy rate (p < 0.05), birth rate (p < 0.05), infertility rate (p < 0.05), single born kidding (p < 0.001), twinning rate (p < 0.05), triplet rate (p < 0.05), survival rate of kids until weaning (p < 0.05), number of kids per parturition (p < 0.01) and number of kids per mating (p < 0.01) were found significant. The impacts of year on birth rate (p < 0.05), abortion rate (p < 0.001), single born kidding (p < 0.01), survival rate of kids until weaning (p < 0.01), number of kids per mating (p < 0.01) were found significant for fertility traits. The impacts of lactation length on all milk yield parameters (lactation milk, protein, fat, totally solid, solid not fat, casein and lactose yield) (p < 0.001) were found significant. The effects of age on all milk yield parameters (lactation milk, protein, fat, total solid, solid not fat, casein and lactose yield) (p < 0.001), protein rate (p < 0.05), fat rate (p < 0.05), total solid rate (p < 0.01), solid not fat rate (p < 0.05), casein rate (p < 0.05) and lactation length (p < 0.01), were found significant too. However, the effect of AGPAT6 gene on milk yield and composition was not found significant in Saanen goats. The herd was found monomorphic (FF) for CSN3 gene. The effects of sex on live weights until 90ᵗʰ days of life (birth, weaning and 60ᵗʰ day of average weight) were found significant statistically (p < 0.001). The maternal age affected only birth weight (p < 0,001). The effects month at birth on all of the investigated day [the birth, 120ᵗʰ, 180ᵗʰ days (p < 0.05); the weaning, 60ᵗʰ, 90ᵗʰ days (p < 0,001)] were found significant. The birth type was found significant on the birth (p < 0,001), weaning (p < 0,01), 60ᵗʰ (p < 0,01) and 90ᵗʰ (p < 0,01) days of average live weights. As a result, screening the other regions of CSN3, AGPAT6 gene and also investigation the phenotypic association of them should be useful to clarify the efficiency of target genes. Environmental factors such as maternal age, year, sex and birth type were found significant on some growth, fertility and milk traits in Saanen goats. So consideration of these factors could be used as selection criteria in dairy goat breeding.

Keywords: fertility, growth, milk yield, Saanen goats

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Authors: Nirav P. Vaghela

Abstract:

Work-related musculoskeletal symptoms (WMS) are a major health issue in many occupations all over the world. Past research on hospital workers have mainly been focused on nurses [8] and very few studies have examined musculoskeletal symptoms among doctors in various specialties. The work of surgeons can involve high levels of mental concentration and very precise movements that can be categorized as mild-to-moderate physical demands. Design: Forty-three surgeons were enrolled in this study. To investigate musculoskeletal disorder among the surgeons we had used Standardised Nordic Questionnaire, Quick Exposure Check (QEC) and Workstyle Short Form. Result: In the current study, total 43 surgeons participants out of 30 males and 13 females. Their mean age was 42.07 ± 12.35, and the mean working years of the group were 15.14years ±9.017. On the average, they worked a total of about 8.58 h (±1.967) per day. The prevalence of work related musculoskeletal symptoms among the surgeons indicating 83.70% surgeons had atleast one joint affected while 16.30% had no symptoms at all. Conclusion: The present survey study has shown high prevalence rates of neck, back and shoulder musculoskeletal symptoms in surgeons.

Keywords: repetitive stress injury, pain, occupational hazards, disability, abneetism, physical health, quality of life

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Authors: Molly Parker

Abstract:

Unintended pregnancy rates in Australia are amongst the highest in the developed world. Women with Substance Use Disorder often have riskier sexual behavior with nil contraceptive use and face disproportionately higher unintended pregnancies and Sexually Transmitted Infections, alongside Substance Use in Pregnancy (SUP) climbing at an alarming rate. In an inner-city Drug and Alcohol (D&A) service, significant barriers to sexual and reproductive health services have been identified, aligning with research. Rapid pathways were created for women seeking D&A treatment to be referred to Sexual and Reproductive Health services for the administration of Long-acting reversible contraception (LARC) and sexual health screening. For clients attending a D&A service, this is an opportunistic time to offer sexual and reproductive health services. Collaboration and multidisciplinary team input between D&A and sexual health and reproductive services are paramount, with rapid referral pathways being identified as the main strategy to improve access to sexual and reproductive health support for this population. With this evidence, a rapid referral pathway was created for women using the D&A service to access LARC, particularly in view of fertility often returning once stable on D&A treatment. A closed-ended survey was used for D&A staff to identify gaps in reproductive health knowledge and views of referral accessibility. Results demonstrated a lack of knowledge of contraception and appropriate referral processes. A closed-ended survey for clients was created to establish the need and access to services and to quantify data. A follow-up data collection will be reviewed to access uptake and satisfaction of the intervention from clients. Sexual health screening access was also identified as a deficit, particularly concerning due to the higher rates of STIs in this cohort. A rapid referral pathway will be undergoing implementation, reducing risks of untreated STIS both pre and post-conception. Similarly, pre and post-intervention structured surveys will be used to identify client satisfaction from the pathway. Although currently in progress, the research and pathway aim to be completed by December 2023. This research and implementation of sexual and reproductive health pathways from the D&A service have significant health and well-being benefits to clients and the wider community, including possible fetal/infancy outcomes. Women now have rapid access to sexual and reproductive health services, with the aim of reducing unplanned pregnancies, poor outcomes associated with SUP, client/staff trauma from termination of pregnancy, and client/staff trauma following the assumption of care of the child due to substance use, the financial cost for out of home care as required, the poor outcomes of untreated STIs to the fetus in pregnancy and the spread of STIs in the wider community. As evidence suggests, the implementation of a streamlined referral process is required between D&A and sexual and reproductive health services and has positive feedback from both clinicians and clients in improving care.

Keywords: substance use in pregnancy, drug and alcohol, substance use disorder, sexual health, reproductive health, contraception, long-acting reversible contraception, neonatal abstinence syndrome, FASD, sexually transmitted infections, sexually transmitted infections pregnancy

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