Search results for: disease duration

Authors: Bibek Sapkota, Michael Burton, Krishna Prasad Timsina

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This paper presents a discrete choice experiment (DCE)-based analysis of farmers' preferences for rice variety attributes involving 540 farmers from the Terai region of Nepal clustered into East, Mid, and Western Terai regions. Findings reveal that farmers prioritize grain yield, finer grain types, drought tolerance, and shorter crop duration when selecting rice varieties, with subtle gender-based differences observed. However, breeding programs have predominantly emphasized grain yield and crop duration, possibly neglecting other vital traits. Furthermore, the research reveals a concerning decline in the yield trends of both released and registered rice varieties. Notably, the limited availability of recommended rainfed varieties, despite strong farmer preferences for drought tolerance, underscores the imperative of bridging this gap to ensure food security. This study provides insights into the multifaceted nature of farmer preferences and calls for a more holistic approach to varietal development that aligns with farmers' needs and the evolving challenges of rice farming in the Terai region of Nepal.

Keywords: breeders’ preferences, discrete choice experiment, farmers’ preferences, rice variety attributes

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Authors: Marina Passero, Tianhua Zhai, Zuyi (Jacky) Huang

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Alzheimer’s disease has become a major public health issue, as indicated by the increasing populations of Americans living with Alzheimer’s disease. After decades of extensive research in Alzheimer’s disease, only seven drugs have been approved by Food and Drug Administration (FDA) to treat Alzheimer’s disease. Five of these drugs were designed to treat the dementia symptoms, and only two drugs (i.e., Aducanumab and Lecanemab) target the progression of Alzheimer’s disease, especially the accumulation of amyloid-b plaques. However, controversial comments were raised for the accelerated approvals of either Aducanumab or Lecanemab, especially with concerns on safety and side effects of these two drugs. There is still an urgent need for further drug discovery to target the biological processes involved in the progression of Alzheimer’s disease. Excessive cholesterol has been found to accumulate in the brain of those with Alzheimer’s disease. Cholesterol can be synthesized in both the blood and the brain, but the majority of biosynthesis in the adult brain takes place in astrocytes and is then transported to the neurons via ApoE. The blood brain barrier separates cholesterol metabolism in the brain from the rest of the body. Various proteins contribute to the metabolism of cholesterol in the brain, which offer potential targets for Alzheimer’s treatment. In the astrocytes, SREBP cleavage-activating protein (SCAP) binds to Sterol Regulatory Element-binding Protein 2 (SREBP2) in order to transport the complex from the endoplasmic reticulum to the Golgi apparatus. Cholesterol is secreted out of the astrocytes by ATP-Binding Cassette A1 (ABCA1) transporter. Lipoprotein receptors such as triggering receptor expressed on myeloid cells 2 (TREM2) internalize cholesterol into the microglia, while lipoprotein receptors such as Low-density lipoprotein receptor-related protein 1 (LRP1) internalize cholesterol into the neuron. Cytochrome P450 Family 46 Subfamily A Member 1 (CYP46A1) converts excess cholesterol to 24S-hydroxycholesterol (24S-OHC). Cholesterol has been approved for its direct effect on the production of amyloid-beta and tau proteins. The addition of cholesterol to the brain promotes the activity of beta-site amyloid precursor protein cleaving enzyme 1 (BACE1), secretase, and amyloid precursor protein (APP), which all aid in amyloid-beta production. The reduction of cholesterol esters in the brain have been found to reduce phosphorylated tau levels in mice. In this work, a computational pipeline was developed to identify the protein targets involved in cholesterol regulation in brain and further to identify chemical compounds as the inhibitors of a selected protein target. Since extensive evidence shows the strong correlation between brain cholesterol regulation and Alzheimer’s disease, a detailed literature review on genes or pathways related to the brain cholesterol synthesis and regulation was first conducted in this work. An interaction network was then built for those genes so that the top gene targets were identified. The involvement of these genes in Alzheimer’s disease progression was discussed, which was followed by the investigation of existing clinical trials for those targets. A ligand-protein docking program was finally developed to screen 1.5 million chemical compounds for the selected protein target. A machine learning program was developed to evaluate and predict the binding interaction between chemical compounds and the protein target. The results from this work pave the way for further drug discovery to regulate brain cholesterol to combat Alzheimer’s disease.

Keywords: Alzheimer’s disease, drug discovery, ligand-protein docking, gene-network analysis, cholesterol regulation

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Authors: Ali Bayram, Burak Uz, Ilhan Dolasik, Remzi Yiğiter

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The GABARAP (GABAA-receptor-associated protein) family consists of GABARAP, GABARAPL1 (GABARAP-like 1) and GABARAPL2 (GABARAP-like 2). GABARAPL1, like GABARAP, was described to interact with both GABAA receptor and tubulin, and to be involved in intracellular GABAA receptor trafficking and promoting tubulin polymerization. In addition, GABARAPL1 is thought to be involved in various physiological (autophagosome closure, regulation of circadian rhythms) and/or pathological mechanisms (cancer, neurodegeneration). Alzheimer’s disease (AD) is a progressive neuro degenerative disorder characterized with impaired cognitive functions. Disruption of the GABAergic neuro transmission as well as cholinergic and glutamatergic interactions, may also be involved in the pathogenesis of AD. GABARAPL1 presents a regulated tissue expression and is the most expressed gene among the GABARAP family members in the central nervous system. We, herein, conducted a study to investigate the GABARAPL1 mRNA expression levels in patients with AD. 50 patients with AD and 49 control patients were enrolled to the present study. Messenger RNA expression levels of GABARAPL1 were detected by real-time polymerase chain reaction. GABARAPL1 mRNA expression in AD / control patients was 0,495 (95% confidence interval: 0,404-0,607), p= 0,00000002646. Reduced activity of GABARAPL1 gene might play a role, at least partly, in the pathophysiology of AD.

Keywords: Alzheimer’s disease, GABARAPL1, mRNA expression, RT-PCR

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Authors: Matthew Omoniyi Adebola, Jude E Amadi

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Ground nut (Arachis hypogaea) is one of the most popular commercial crops in Nigeria. Its suc-cessful production has been drastically affected by early leaf spot disease caused by Mycosphae-rella arachidis Deighton. In vitro control of the pathogen by six medicinal plants (Entada afri-cana, Vitex doniana, Lawsonia inermis, Azadirachta indica, Acalypha hispida and Nuaclea lati-folia) was assessed in this study. The extracts of the plants were prepared using cold and hot wa-ter and alcohol. The pathogen was isolated from ground nut infected with early leaf spot disease. The results revealed a great significant difference (P<0.05) in yield of extracts between cold water, hot water, and alcohol extracts. A significant difference (P<0.05) was observed in percentage concentrations of the various phytochemical constituents present in the extracts. Flavonoids per-centage concentration was the highest (0.68 - 1.95%) followed by saponnin(0.09-1.53%) in N. latifolia extracts. Steroiods had the least percentage concentrations (0.00- 0.09%)followed by terpenoids(0.02–0.71%) and proanthocyannin (0.05 – 0.86%). N. latifolia extracts produced the highest percentage concentrations (0.07–1.95%) of all the phytochemicals followed by A. indi-ca(0.05–1.64%)and least concentrations were obtained in A. hispidia(0.09 – 0.87%)and V. do-niana (0.00–0.88%). The extracts inhibited spore germination and growth of M. arachidis. The inhibition by alcohol extracts was high and significantly different (P>0.05) from cold and hot water extracts. Alcohol extract of L. inermis gave 100% spore germination inhibition followed by N. latifolia and A.indica with 97.75% and 85.60% inhibition respectively. Therefore, field trials of these six medicinal plants on the control of early leaf spot disease of ground nut are rec-ommended.

Keywords: groundnut, phytochemicals, medicinal plants, extracts, inhibition

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Authors: Dwitya Elvira, Eryati Darwin

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Background: Graves’ disease (GD) is an autoimmune thyroid disease. Imbalance of Th1/Th2 cells and T-regulatory (Treg)/Th17 cells was thought to play pivotal role in the pathogenesis of GD. Treg FoxP3 produced TGF-β to maintain regulatory function, and Th17 cells produced IL-17 as cytokines that were thought in mediating several autoimmune diseases. The aim of this study is to assess the role of IL-17 and TGF-β in the pathogenesis of GD and to investigate its correlation with Thyroid Stimulating Hormone Receptor Antibody (TRAb) and Treg FoxP3 expression. Method: 30 GD patients and 27 age and sex-matched controls were enrolled in this study. Diagnosis of GD was based on clinical and biochemical of GD. Serum IL-17, TGF-β, TRAb, and FoxP3 were measured by enzyme-linked immunosorbent assay (ELISA). Data were analyzed by using SPSS 21.0 (SPSS Inc.). Spearman rank correlation test was used for assessment of correlation. The statistical significance was accepted as P<0.05. Result: There was no significant correlation between IL-17 and TGF-β serum with expression of FoxP3 level in GD, but there was significant correlation between TGF-β and TRAb serum level (P<0.05). Serum levels of IL-17 and TGF-β were found to be elevated in patient group compared to control, where mean values of IL-17 were 14.43±2.15 pg/mL and TGF-β were 10.44±3.19 pg/mL in patients group; and in control group, level of IL-17 were 7.1±1.45 pg/mL and TGF-β were 4.95±1.35 pg/mL. Conclusion: Serum Il-17 and TGF-β were elevated in GD patients that reflect the role of inflammatory and regulatory cytokines activation in pathogenesis of GD. There was significant correlation between TGF-β and TRAb, revealing that Treg cytokines may play a role in pathogenesis of GD.

Keywords: IL-17, TGF-B, FoxP3, TRAb, Graves’ disease

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Authors: Huong M. T. Nguyen, Hoa A. P. Nguyen, Mai P. T. Nguyen, Ngoc D. Ngo, Van T. Ta, Hai T. Le, Chi V. Phan

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Wilson’s disease (WD) is an autosomal recessive disorder of the copper metabolism, which is caused by a mutation in the copper-transporting P-type ATPase (ATP7B). The mechanism of this disease is the failure of hepatic excretion of copper to bile, and leads to copper deposits in the liver and other organs. The ATP7B gene is located on the long arm of chromosome 13 (13q14.3). This study aimed to investigate the gene mutation in the Vietnamese patients with WD, and make a presymptomatic diagnosis for their familial members. Forty-three WD patients and their 65 siblings were identified as having ATP7B gene mutations. Genomic DNA was extracted from peripheral blood samples; 21 exons and exon-intron boundaries of the ATP7B gene were analyzed by direct sequencing. We recognized four mutations ([R723=; H724Tfs*34], V1042Cfs*79, D1027H, and IVS6+3A>G) in the sum of 20 detectable mutations, accounting for 87.2% of the total. Mutation S105* was determined to have a high rate (32.6%) in this study. The hotspot regions of ATP7B were found at exons 2, 16, and 8, and intron 14, in 39.6 %, 11.6 %, 9.3%, and 7 % of patients, respectively. Among nine homozygote/compound heterozygote siblings of the patients with WD, three individuals were determined as asymptomatic by screening mutations of the probands. They would begin treatment after diagnosis. In conclusion, 20 different mutations were detected in 43 WD patients. Of this number, four novel mutations were explored, including [R723=; H724Tfs*34], V1042Cfs*79, D1027H, and IVS6+3A>G. The mutation S105* is the most prevalent and has been considered as a biomarker that can be used in a rapid detection assay for diagnosis of WD patients. Exons 2, 8, and 16, and intron 14 should be screened initially for WD patients in Vietnam. Based on risk profile for WD, genetic testing for presymptomatic patients is also useful in diagnosis and treatment.

Keywords: ATP7B gene, mutation detection, presymptomatic diagnosis, Vietnamese Wilson’s disease

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Authors: Andy S.K. Cheng, Samuel Leung, Cindy Kwok, Hector Tsang

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Background: Telephone counselling is one of the essential interventions that can be found in most of the Employee Assistance Programs (EAP). The purposes of this study were to (1) explore the trend of the telephone counselling from 2003-2016 in Hong Kong; (2) explore which EAP issue requires more follow-up; and 3) examine the relationship between the EAP issues and demographic data such as gender and job ranking. Method: Date of EAP services usage was collected from EAP providers in Hong Kong during 2003-2016. EAP issues were categorized into two domains, namely workplace issues and personal issues. Each domain has 12 sub-categories. Two hypotheses were formulated in this study (1) there was a gender difference in EAP issues and the follow-up hours; and (2) there was a significant difference between job ranking, EAP issues and follow-up hours. Results: A total of eight hundred and ninety-three valid cases were identified for analysis. Of them, three hundred and forty-three cases sought for follow-up. The duration of follow-up by hours was calculated for each of the follow-up cases. The results of the study shows that the top three workplace issues that required the longest duration of follow-up were (1) workload, (2) supervisor-subordinate relationship; and (3) team member’s relationship. On the other hand, the top three personal issues that required the longest duration of follow-up were (1) parenting/parent-child relationship, (2) family care, and (3) marital relationship. Two-way ANOVA was performed to compare the total follow-up hours (excluding first intake) between gender and EAP issues. There was no statistical significance for gender (p =.891), but a statistically significant main effect for EAP issues (p <.001) was found. Post-hoc analysis (Tukey’s test) showed that total follow-up hour in personal issues was statistically significant higher than that in handling workplace issues (p <.001). However, there was no statistically significant interaction effect between gender and EAP issues (p=.879) and between job ranking and EAP issues (p=.843). Conclusion: Telephone counselling is a very common intervention in addressing EAP issues arising from workplace and personal level in Hong Kong. It was frequently used to handle interpersonal relationships and the service usage was independent of gender and job ranking.

Keywords: employee assistance program, follow-up time, interpersonal relationships, telephone counselling

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Authors: Julia Kapr, Andrea Rossi, Haribaskar Ramachandran, Marius Pollet, Ilka Egger, Selina Dangeleit, Katharina Koch, Jean Krutmann, Ellen Fritsche

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It is widely acknowledged that animal models do not always represent human disease. Especially human brain development is difficult to model in animals due to a variety of structural and functional species-specificities. This causes significant discrepancies between predicted and apparent drug efficacies in clinical trials and their subsequent failure. Emerging alternatives based on 3D in vitro approaches, such as human brain spheres or organoids, may in the future reduce and ultimately replace animal models. Here, we present a human induced pluripotent stem cell (hiPSC)-based 3D neural in a vitro disease model for the Cockayne Syndrome B (CSB). CSB is a rare hereditary disease and is accompanied by severe neurologic defects, such as microcephaly, ataxia and intellectual disability, with currently no treatment options. Therefore, the aim of this study is to investigate the molecular and cellular defects found in neural hiPSC-derived CSB models. Understanding the underlying pathology of CSB enables the development of treatment options. The two CSB models used in this study comprise a patient-derived hiPSC line and its isogenic control as well as a CSB-deficient cell line based on a healthy hiPSC line (IMR90-4) background thereby excluding genetic background-related effects. Neurally induced and differentiated brain sphere cultures were characterized via RNA Sequencing, western blot (WB), immunocytochemistry (ICC) and multielectrode arrays (MEAs). CSB-deficiency leads to an altered gene expression of markers for autophagy, focal adhesion and neural network formation. Cell migration was significantly reduced and electrical activity was significantly increased in the disease cell lines. These data hint that the cellular pathologies is possibly underlying CSB. By induction of autophagy, the migration phenotype could be partially rescued, suggesting a crucial role of disturbed autophagy in defective neural migration of the disease lines. Altered autophagy may also lead to inefficient mitophagy. Accordingly, disease cell lines were shown to have a lower mitochondrial base activity and a higher susceptibility to mitochondrial stress induced by rotenone. Since mitochondria play an important role in neurotransmitter cycling, we suggest that defective mitochondria may lead to altered electrical activity in the disease cell lines. Failure to clear the defective mitochondria by mitophagy and thus missing initiation cues for new mitochondrial production could potentiate this problem. With our data, we aim at establishing a disease adverse outcome pathway (AOP), thereby adding to the in-depth understanding of this multi-faced disorder and subsequently contributing to alternative drug development.

Keywords: autophagy, disease modeling, in vitro, pluripotent stem cells

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Authors: Arsalan Hassan Pour, Mansoureh Jeihani, Samira Ahangari

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Distracted driving has been one of the most integral concerns surrounding our daily use of vehicles since the invention of the automobile. While much attention has been recently given to cell phones related distraction, commercial billboards along roads are also candidates for drivers' visual and cognitive distractions, as they may take drivers’ eyes from the road and their minds off the driving task to see, perceive and think about the billboard’s content. Using a driving simulator and a head-mounted eye-tracking system, speed change, acceleration, deceleration, throttle response, collision, lane changing, and offset from the center of the lane data along with gaze fixation duration and frequency data were collected in this study. Some 92 participants from a fairly diverse sociodemographic background drove on a simulated freeway in Baltimore, Maryland area and were exposed to three different billboards to investigate the effects of billboards on drivers’ behavior. Participants glanced at the billboards several times with different frequencies, the maximum of which occurred on the billboard with the highest cognitive load. About 74% of the participants didn’t look at billboards for more than two seconds at each glance except for the billboard with a short visible area. Analysis of variance (ANOVA) was performed to find the variations in driving behavior when they are invisible, readable, and post billboards area. The results show a slight difference in speed, throttle, brake, steering velocity, and lane changing, among different areas. Brake force and deviation from the center of the lane increased in the readable area in comparison with the visible area, and speed increased right after each billboard. The results indicated that billboards have a significant effect on driving performance and visual attention based on their content and visibility status. Generalized linear model (GLM) analysis showed no connection between participants’ age and driving experience with gaze duration. However, the visible distance of the billboard, gender, and billboard content had a significant effect on gaze duration.

Keywords: ANOVA, billboards, distracted driving, drivers' behavior, driving simulator, eye-Tracking system, GLM

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Authors: G. Tamilpavai, C. Vishnuppriya

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Studying DNA (deoxyribonucleic acid) sequence is useful in biological processes and it is applied in the fields such as diagnostic and forensic research. DNA is the hereditary information in human and almost all other organisms. It is passed to their generations. Earlier stage detection of defective DNA sequence may lead to many developments in the field of Bioinformatics. Nowadays various tedious techniques are used to identify defective DNA. The proposed work is to analyze and identify the cancer-causing DNA motif in a given sequence. Initially the human DNA sequence is separated as k-mers using k-mer separation rule. The separated k-mers are clustered using Self Organizing Map (SOM). Using Levenshtein distance measure, cancer associated DNA motif is identified from the k-mer clusters. Experimental results of this work indicate the presence or absence of cancer causing DNA motif. If the cancer associated DNA motif is found in DNA, it is declared as the cancer disease causing DNA sequence. Otherwise the input human DNA is declared as normal sequence. Finally, elapsed time is calculated for finding the presence of cancer causing DNA motif using clustering formation. It is compared with normal process of finding cancer causing DNA motif. Locating cancer associated motif is easier in cluster formation process than the other one. The proposed work will be an initiative aid for finding genetic disease related research.

Keywords: bioinformatics, cancer motif, DNA, k-mers, Levenshtein distance, SOM

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Authors: Fatimah Abd Elghani, Raymonde Szargel, Vered Shani, Hazem Safory, Haya Hamza, Mor Savyon, Ruth Rott, Rina Bandopadhyay, Simone Engelender

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Background: PINK1 is a mitochondrial kinase mutated in some familial cases of Parkinson’s disease. Down regulation of PINK1 results in abnormal mitochondrial morphology and altered membrane potential. Although PINK1 has a predicted mitochondrial import sequence, it’s cellular, and submitochondrial localization remains unclear, in part because it is rapidly degraded. In this work, we investigated the mechanisms involved in PINK1 degradation and how this may affect PINK1 stability and function, with implications for mitochondrial function in PD. In addition, pharmacological inhibition of proteasome activity was shown to lead to PINK1 accumulation, indicating that PINK1 degradation depends on the ubiquitin-proteasome system (UPS). Methods: Using co-immunoprecipitation assays, we identified E3 ubiquitin ligase SIAH1 as a PINK1-interacting protein in HEK293 cells as well as on rat brain tissues. In addition, we determined the effect of SIAH 1, SIAH2 and Parkin on PINK1 steady-state levels by Western blot analysis, and checked their possibility to ubiquitinate and mediate PINK1 degradation through the proteasome carried out in vivo ubiquitination experiments. Results: We have obtained results showing that SIAH-1 interacts with and ubiquitinates PINK1. The ubiquitination promoted by SIAH-1 leads to the proteasomal degradation of PINK1. We confirmed these findings by knocking down SIAH-1 and observing important accumulation of PINK1 in cells. Besides, we found that SIAH-1 decreases PINK1 steady-state levels but not the E3 ligase Parkin. We also investigated the interaction of SIAH-1 with PINK1 disease mutants and its ability to promote their ubiquitination and degradation. Although, no clear difference in the ability of SIAH-1 to promote the degradation of PINK1 disease mutants was observed. It is possible that dysfunction of proteasomal activity in the disease may lead to the accumulation and aggregation of ubiquitinated PINK1 in patients with PINK1 mutations, with possible implications to the pathogenesis of PD. Conclusions: Here, we demonstrated that SIAH-1 ubiquitinates and promotes the degradation of PINK1. In addition, SIAH-1 represents now a target that may help the improvement of mitophagy in PD. Further investigations needed to understand how mitophagy is regulated by PINK1-SIAH-1 axis to provide targets for future therapeutics.

Keywords: PD, Parkinson's disease, PINK1, PTEN-induced kinase1, SIAH, seven in absentia homolog, SN, substantia nigra

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Authors: Mohammed E. Mansour, Tamador M. A. Elhassan, Nahid A. Ibrahim, Awatif A. Ahmed, Manal A. Abdalla

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Rift valley fever (RVF) is mosquito-borne disease. RVF is transboundary zoonotic disease. It has socioeconomic and public health importance. This paper describes qualitative risk of the RVF vaccine production. RVF is endemic in the Sudan. It has been reported in Sudan due to abundance of Ades Eqytie. Thus, there is huge effort to control it. Vaccination practices had significant role to control and manage RVF. The risk assessment explains the likelihood of a risk as likely. Thus, insecticides and repellents synergize the effort of the vaccination.

Keywords: qualitative analysis, risk assessment, rift valley fever vaccine, quality control

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Authors: Harshadkumar Rajgor, Jeff Butterworth

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Background: Barretts oesophagus increases the risk of developing oesophageal adenocarcinoma. Over the last 40 years, there has been a 6 fold increase in the incidence of oesophageal adenocarcinoma in the western world and the incidence rates are increasing at a greater rate than cancers of the colon, breast and lung. Endoscopic mucosal resection (EMR) is a relatively new technique being used by 2 centres in the greater midlands cancer network. EMR can be used for curative or staging purposes, for high-grade dysplasia’s and T1 tumours of the oesophagus. EMR is also suitable for those who are deemed high risk for oesophagectomy. EMR has a recurrence rate of 21% according to the Wiesbaden data. Method: A retrospective study of prospectively collected data was carried out involving 24 patients who had EMR for curative or staging purposes. Complications of residual or recurrent disease following EMR that required further treatment were investigated. Results: In 54% of cases residual or recurrent disease was suspected. 96% of patients were given clear and concise information regarding their diagnosis of high-grade dysplasia or T1 tumours. All 24 patients consulted the same specialist healthcare team. Conclusion: EMR is a safe and effective treatment for patients who have high-grade dysplasia and T1NO tumours. In 54% of cases residual or recurrent disease was suspected. Initially, only single resections were undertaken. Multiple resections are now being carried out to reduce the risk of recurrence. Complications from EMR remain low in this series and consisted of a single episode of post procedural bleeding.

Keywords: endoscopic mucosal resection, oesophageal dysplasia, T1 tumours, cancer network

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Authors: Ying Zhu, Ning Wu, Hai-Dong Huang, Yu-Chao Dong, Qin-Ying Sun, Wei Zhang, Qin Wang, Qiang Li

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Background and study aims: Tracheobronchopathia osteochondroplastica (TO) is an uncommon disease of the tracheobronchial system that leads to narrowing of the airway lumen from cartilaginous and/or osseous submucosal nodules. The aim of this study is to perform a detailed review of this rare disease in a large cohort of patients with TO proven by fiberoptic bronchoscopy from China. Patients and Methods: Retrospective chart review was performed on 41,600 patients who underwent bronchoscopy in the Department of Respiratory Medicine of Changhai Hospital between January 2005 and December 2012. Cases of TO were identified based on characteristic features during bronchoscopic examination. Results: 22 cases of bronchoscopic TO were identified. Among whom one-half were male and the mean age was 47.45 ±10.91 years old. The most frequent symptoms at presentation were chronic cough (n=14) and increased sputum production (n=10). Radiographic abnormalities were observed in 3/18 patients and findings on computed tomography consistent with TO such as beaded intraluminal calcifications and/or increased luminal thickenings were observed in 18/22 patients. Patients were classified into the following categories based on the severity of bronchoscopic findings: Stage I (n=2), Stage II (n=6) and Stage III(n=14). The result that bronchoscopic improvement was observed in 2 patients administered with inhaled corticosteroids suggested that resolution of this disease is possible. Conclusions: TO is a benign disease with slow progression, which could be roughly divided into 3 stages on the basis of the characteristic endoscopic features and histopathologic findings. Chronic inflammation was thought to be more important than the other existing plausible hypotheses in the course of TO. Inhaled corticosteroids might have some impact on patients at Stage I/II.

Keywords: airway obstruction, bronchoscopy, etiology, Tracheobronchopathia osteochondroplastica (TO), treatment

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Authors: Zi-Han Li, Zi-Jun Sun, Dong-Yuan Chang, Li Zhu, Min Chen, Ming-Hui Zhao

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Aims: A genome-wide association study (GWAS) reported that patients with the rs55703767 minor allele in collagen type IV α3 chain encoding gene COL4A3 showed protection against diabetic kidney disease (DKD) in type 1 diabetes mellitus (T1DM). However, the role of rs55703767 in type 2 DKD has not been elucidated. The aim of the current study was to investigate the association between COL4A3 variant rs55703767 and DKD risk in Chinese patients with type 2 diabetes mellitus (T2DM). Methods: This nested case-control study was performed on 1311 patients who had T2DM for at least 10 years, including 580 with DKD and 731 without DKD. We detected the genotypes of all patients by TaqMan SNP Genotyping Assay and analyzed the association between COL4A3 variant rs55703767 and DKD risk. Results: Genetic analysis revealed that there was no significant difference between T2DM patients with DKD and those without DKD regarding allele or genotype frequencies of rs55703767, and the effect of this variant was not hyperglycemia specific. Conclusion: Our findings suggested that there was no detectable association between the COL4A3 variant rs55703767 and the susceptibility to DKD in the Chinese T2DM population.

Keywords: collagen type IV α3 chain, gene polymorphism, type 2 diabetes, diabetic kidney disease

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Authors: Xuzhen Yang, Yan Shan, Yabo Ding, Keke DIao, Yanjun Zhang, Yijia Huang

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Purpose: Our aim is to understand the unique experiences of patients with peritoneal dialysis and how they deal with issues brought on by disease and dialysis. Patients and Methods: Semi-structured interview was designed to collect information, and inpatients with peritoneal dialysis in a university-based tertiary hospital in the central province of China were purposively chosen as interviewees. The content analysis method was used to analyze the data. Results: Nine patients participated in the study, and three themes and eight subthemes were generated. Conclusion: Patients using peritoneal dialysis encounter numerous challenges and problems in the process of disease and dialysis, and they took attempt to cope with them well to adapt to living with peritoneal dialysis.

Keywords: peritoneal dialysis, experience, patient, coping strategy

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Authors: Kamil Ganaev, Elina Vlasova, Andrei Shiryaev, Renat Akchurin

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De novo atrial fibrillation (AF) after coronary artery bypass grafting (CABG) is a common complication. To date, there are no data on the possible effect of diffuse lesions of coronary arteries on the incidence of postoperative AF complications. Methods. Patients operated on-pump under hypothermic conditions during the calendar year (2020) were studied. Inclusion criteria - isolated CABG and achievement of complete myocardial revascularization. Patients with a history of AF moderate and severe valve dysfunction, hormonal thyroid pathology, initial CHF(Congestive heart failure), as well as patients with developed perioperative complications (IM, acute heart failure, massive blood loss) and deceased were excluded. Thus 227 patients were included; mean age 65±9 years; 69% were men. 89% of patients had a 3-vessel lesion of the coronary artery; the remainder had a 2-vessel lesion. Mean LV size: 3.9±0.3 cm, indexed LV volume: 29.4±5.3 mL/m2. Two groups were considered: D (n=98), patients with diffuse coronary heart disease, and L (n=129), patients with local coronary heart disease. Clinical and demographic characteristics in the groups were comparable. Rhythm assessment: continuous bedside ECG monitoring up to 5 days; ECG CT at 5-7 days after CABG; daily routine ECG registration. Follow-up period - postoperative hospital period. Results. The Median follow-up period was 9 (7;11) days. POFP (Postoperative atrial fibrillation) was detected in 61/227 (27%) patients: 34/98 (35%) in group D versus 27/129 (21%) in group L; p<0.05. Moreover, the values of revascularization index in groups D and L (3.9±0.7 and 3.8±0.5, respectively) were equal, and the mean time Cardiopulmonary bypass (CPB) (107±27 and 80±13min), as well as the mean ischemic time (67±17 and 55±11min) were significantly longer in group D (p<0.05). However, a separate analysis of these parameters in patients with and without developed AF did not reveal any significant differences in group D (CPB time 99±21.2 min, ischemic time 63±12.2 min), or in group L (CPB time 88±13.1 min, ischemic time 58.7±13.2 min). Conclusion. With the diffuse nature of coronary lesions, the incidence of AF in the hospital period after isolated CABG definitely increases. To better understand the role of severe coronary atherosclerosis in the development of POAF, it is necessary to distinguish the influence of organic features of atrial and ventricular myocardium (as a consequence of chronic coronary disease) from the features of surgical correction in diffuse coronary lesions.

Keywords: atrial fibrillation, diffuse coronary artery disease, coronary artery bypass grafting, local coronary artery disease

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Authors: Luiz Daniel Garay Trindade, Antonio De Freitas Valle Neto, Fabio Paulo Basso, Elder De Macedo Rodrigues, Maicon Bernardino, Daniel Welfer, Daniel Muller

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Agriculture plays an important role in society since it is one of the main sources of food in the world. To help the production and yield of crops, precision agriculture makes use of technologies aiming at improving productivity and quality of agricultural commodities. One of the problems hampering quality of agricultural production is the disease affecting crops. Failure in detecting diseases in a short period of time can result in small or big damages to production, causing financial losses to farmers. In order to provide a map of the contributions destined to the early detection of plant diseases and a comparison of the accuracy of the selected studies, a systematic literature review of the literature was performed, showing techniques for digital image processing and neural networks. We found 35 interesting tool support alternatives to detect disease in 19 plants. Our comparison of these studies resulted in an overall average accuracy of 87.45%, with two studies very closer to obtain 100%.

Keywords: pattern recognition, image processing, deep learning, precision agriculture, smart farming, agricultural automation

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Authors: Fatma H. Galal, Alaaeddeen M. Seufi

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Due to the increasing usage of mobile phone, experiments were designed to investigate ‎the effect of acute dose exposure on the mosquito life cycle. 50 tubes (5 ml size) ‎containing 3 ml water and a first instar larva of the mosquito, Culex univittatus were put ‎between two mobile cell phones switched on talking mode for 4 continuous hours. A ‎control group of tubes (unexposed to radiation) were used. Larval and pupal durations ‎were calculated. Furthermore, adult emergence and sex ratio were observed for both ‎treated and control larvae. Results indicated that the employed dose of radiation reduced ‎total larval duration to about half the value of control. 1st, 2nd, 3rd and 4th larval ‎durations were reduced significantly by mobile radiation when compared to controls. ‎Meanwhile pupal duration was elongated significantly by mobile radiation when ‎compared to control. Sex ratio was significantly shifted in favor of females in the case of ‎radiated mosquitoes. Successful adult emergence was decreased significantly in the case ‎of radiated insects when compared to controls. Molecular studies to investigate the ‎effects of mobile radiation on insects and other model organisms are going on.‎

Keywords: mosquito, mobilr radiation, larval and pupal durations, sex ratio

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Authors: Le Jiang, Chua Jinxing

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Introduction: The recent outbreak of Ebola virus disease in the west Africa has drawn global concern. With a high fatality rate and direct human-to-human transmission, it has spread between countries and caused great damages for patients and family who are affected. Being the designated hospital to manage epidemic outbreak in Singapore, Tan Tock Seng Hospital (TTSH) is facing great challenges in preparation and managing of potential outbreak of emerging infectious disease such as Ebola virus disease. Aim: We conducted an infection control drill in TTSH emergency department to assess the readiness of healthcare and allied health workers in managing suspected Ebola patients. It also helps to review current Ebola clinical protocol and work instruction to ensure more smooth and safe practice in managing Ebola patients in TTSH emergency department. Result: General preparedness level of staffs involved in managing Ebola virus disease in TTSH emergency department is not adequate. Knowledge deficits of staffs on Ebola personal protective equipment gowning and degowning process increase the risk of potential cross contamination in patient care. Loopholes are also found in current clinical protocol, such as unclear instructions and inaccurate information, which need to be revised to promote better staff performance in patient management. Logistic issues such as equipment dysfunction and inadequate supplies can lead to ineffective communication among teams and causing harm to patients in emergency situation. Conclusion: The infection control drill identified the need for more well-structured and clear clinical protocols to be in place to promote participants performance. In addition to quality protocols and guidelines, systemic training and annual refresher for all staffs in the emergency department are essential to prepare staffs for the outbreak of Ebola virus disease. Collaboration and communication with allied health staffs are also crucial for smooth delivery of patient care and minimising the potential human suffering, properties loss or injuries caused by disease. Therefore, more clinical drills with collaboration among various departments involved are recommended to be conducted in the future to monitor and assess readiness of TTSH emergency department in managing Ebola virus disease.

Keywords: ebola, emergency department, infection control drill, Tan Tock Seng Hospital

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Authors: Geovana Soncin, Larissa Berti

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Some aspects of prosody acquisition remain still unclear, especially regarding atypical speech development processes. This work deals with prosody acquisition and its implications for clinical purposes. Therefore, we analyze speech samples produced by adult speakers, children in typical language development, and children with phonological disorders. Phonological disorder comprises deviating manifestations characterized by inconsistencies in the phonological representation of a linguistic system under acquisition. The clinical assessment is performed mostly based on contrasts whose manifestations occur in the segmental level of a phonological system. Prosodic organization of spoken utterances is not included in the standard assessment. However, assuming that prosody is part of the phonological system, it was hypothesized that children with Phonological Disorders could present inconsistencies that also occur at a prosodic level. Based on this hypothesis, the paper aims to analyze contrastive focus marking in the speech of children with Phonological Disorders in comparison with the speech of children under Typical Language Development and adults. The participants of all groups were native speakers of Brazilian Portuguese. The investigation was designed in such a way as to identify differences and similarities among the groups that could be interpreted as clues of normal or deviant processes of prosody acquisition. Contrastive focus in Brazilian Portuguese is marked by increasing duration, f0, and intensity on the focused element as well as by a particular type of pitch accent (L*+H). Thirty-nine subjects participated, thirteen from each group. Acoustic analysis was performed, considering duration, intensity, and intonation as parameters. Children with PD were recruited in sessions from a service provided by Speech-Language Pathology Therapy; children in TD, paired in age and sex with the first group, were recruited in a regular school; and 20-24 years old adults were recruited from a University class. In a game prepared to elicit focused sentences, all of them produced the sentence “Girls love red dress,” marking focus on different syntactic positions: subject, verb, and object. Results showed that adults, children in typical language development, and children with Phonological Disorders marked contrastive focus differently: typical children used all parameters like adults do; however, in comparison with them, they exaggerated duration and, in the opposite direction, they did not increase f0 in a sufficient magnitude as adults; children with Phonological Disorder presented inconsistencies in duration, not increasing it in some syntactic positions, and also in intonation, not producing the representative pitch accent of contrastive focus. The results suggest prosody is also affected by phonological disorder and give clues of developmental processes of prosody acquisition.

Keywords: Brazilian Portuguese, contrastive focus, phonological disorder, prosody acquisition

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Authors: Garba Iliyasu, Lamaran Dattijo

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Introduction: Ebola virus disease (EVD) is a disease of humans and other primates caused by Ebola viruses. The most widespread epidemic of EVD in history occurred recently in several West African countries. The burden and outcome of EVD in pregnant women remains uncertain. There are very few studies to date reporting on maternal and fetal outcomes among pregnant women with EVD, hence the justification for this comprehensive review of these published studies. Methods: Published studies in English that reported on maternal and or fetal outcome among pregnant women with EVD up to May 2016 were searched in electronic databases (Google Scholar, Medline, Embase, PubMed, AJOL, and Scopus). Studies that did not satisfy the inclusion criteria were excluded. We extracted the following variables from each study: geographical location, year of the study, settings of the study, participants, maternal and fetal outcome.Result: There were 12 studies that reported on 108 pregnant women and 110 fetal outcomes. Six of the studies were case reports, 3 retrospective studies, 2 cross-sectional studies and 1 was a technical report. There were 91(84.3%) deaths out of the 108 pregnant women, while only 1(0.9%) fetal survival was reported out of 110. Survival rate among the 15 patients that had spontaneous abortion/stillbirth or induced delivery was 100%. Conclusion: There was a poor maternal and fetal outcome among pregnant women with EVD, and fetal evacuation significantly improves maternal survival.

Keywords: Africa, ebola, maternofetal, outcome

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Authors: Shiamaa Eltantawy, Gihan Sobhy, Alif Alaam

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Wilson disease, or hepatolenticular degeneration, is an autosomal recessive disease that results in excess copper buildup in the body. It primarily affects the liver and basal ganglia of the brain, but it can affect other organ systems. Musculoskeletal abnormalities, including premature osteoarthritis, skeletal deformity, and pathological bone fractures, can occasionally be found in WD patients with a hepatic or neurologic type. The aim was to assess the prevalence of osteoporosis and osteopenia in Wilson’s disease patients. This case-control study was conducted on ninety children recruited from the inpatient ward and outpatient clinic of the Paediatric Hepatology, Gastroenterology, and Nutrition department of the National Liver Institute at Menofia University, aged from 1 to 18 years. Males were 49, and females were 41. Children were divided into three groups: (Group I) consisted of thirty patients with WD; (Group II) consisted of thirty patients with chronic liver disease other than WD; (Group III) consisted of thirty age- and sex-matched healthy The exclusion criteria were patients with hyperparathyroidism, hyperthyroidism, renal failure, Cushing's syndrome, and patients on certain drugs such as chemotherapy, anticonvulsants, or steroids. All patients were subjected to the following: 1- Full history-taking and clinical examination. 2-Laboratory investigations: (FBC,ALT,AST,serum albumin, total protein, total serum bilirubin,direct bilirubin,alkaline phosphatase, prothrombin time, serum critine,parathyroid hormone, serum calcium, serum phosphrus). 3-Bone mineral density (BMD, gm/cm2) values were measured by dual-energy X-ray absorptiometry (DEXA). The results revealed that there was a highly statistically significant difference between the three groups regarding the DEXA scan, and there was no statistically significant difference between groups I and II, but the WD group had the lowest bone mineral density. The WD group had a large number of cases of osteopenia and osteoporosis, but there was no statistically significant difference with the group II mean, while a high statistically significant difference was found when compared to group III. In the WD group, there were 20 patients with osteopenia, 4 patients with osteoporosis, and 6 patients who were normal. The percentages were 66.7%, 13.3%, and 20%, respectively. Therefore, the largest number of cases in the WD group had osteopenia. There was no statistically significant difference found between WD patients on different treatment regimens regarding DEXA scan results (Z-Score). There was no statistically significant difference found between patients in the WD group (normal, osteopenic, or osteoporotic) regarding phosphorus (mg/dL), but there was a highly statistically significant difference found between them regarding ionised Ca (mmol/L). Therefore, there was a decrease in bone mineral density when the Ca level was decreased. In summary, Wilson disease is associated with bone demineralization. The largest number of cases in the WD group in our study had osteopenia (66.7%). Different treatment regimens (zinc monotherapy, Artamin, and zinc) as well as different laboratory parameters have no effect on bone mineralization in WD cases. Decreased ionised Ca is associated with low BMD in WD patients. Children with WD should be investigated for BMD.

Keywords: wilson disease, Bone mineral density, liver disease, osteoporosis

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Authors: Rajish Shil, Amal Alduhoori, Vipin Thomachan, Jamal Teir, Radhakrishnan Renganathan

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Background: Antiphospholipid antibody syndrome (APS) has a broad spectrum of thrombotic and non-thrombotic clinical manifestations. We present a case of APS presenting with seizure, stroke, and atrial mass. Case Description: A 38-year-old male presented with headache of 10 days duration and tonic-clonic seizure. The neurological examination was normal. Magnetic resonance imaging of brain showed small acute right cerebellar infarct. Magnetic resonance angiography of brain and neck showed a focal narrowing in the origin of the internal carotid artery bilaterally. Electroencephalogram was normal. He was started on aspirin, atorvastatin, and carbamazepine. Transthoracic and trans-esophageal echocardiography showed a pedunculated and lobular atrial mass, measuring 1 X 1.5 cm, which was freely mobile across mitral valve opening across the left ventricular inflow. Autoimmune screening showed positive Antiphospholipid antibodies in high titer (Cardiolipin IgG > 120 units/ml, B2 glycoprotein IgG 90 units/mL). Anti-nuclear antibody was negative. Erythrocyte sedimentation rate and C-reactive protein levels were normal. Platelet count was low (111 x 109/L). The patient underwent successful surgical removal of the mass, which looked like a thrombotic clot, and Histopathological analysis confirmed it as a fibrinous clot, with no evidence of tumor cells. The patient was started on full anticoagulation treatment and was followed up regularly in the clinic, where our patient did not have any further complications from the disease. Discussion: Our patient was diagnosed to have APS based on the features of high positive anticardiolipin antibody IgG and B2 glycoprotein IgG levels, Stroke, thrombocytopenia, and abnormal echo findings. Thrombotic vegetation can mimic an atrial myxoma on echo. Conclusion: APS can present with neurological and cardiac manifestations, and therefore a high index of suspicion is necessary for a diagnosis of the disease as it can affect both short and long term treatment plans and prognosis. Therefore, in patients presenting with neurological symptoms like seizures, weakness and radiological diagnosis of stroke in a young patient, where atrial masses could be thought to be the cause of stroke, they should be screened for any concomitant findings of thrombocytopenia and/or activated partial thromboplastin time prolongation, which should raise the suspicion of vasculitis, specifically APS to be the primary cause of the clinical presentation.

Keywords: antiphospholipid syndrome, seizures, atrial mass, stroke

Procedia PDF Downloads 115

Authors: Nahashon Mwirigi

Abstract:

The management of HIV/AIDS is a global challenge, demanding precise tools to predict disease progression and guide tailored treatment. CD4 cell count dynamics, a crucial immune function indicator, play an essential role in understanding HIV/AIDS progression and enhancing patient care through effective modeling. While several models assess disease progression, existing methods often fall short in capturing the complex, non-linear nature of HIV/AIDS, especially across diverse demographics. A need exists for models that balance predictive accuracy with clinical applicability, enabling individualized care strategies based on patient-specific progression rates. This study utilizes patient data from Kenyatta National Hospital (2003–2014) to model HIV/AIDS progression across six CD4-defined states. The Exponential, 2-Parameter Weibull, and 3-Parameter Weibull models are employed to analyze failure rates and explore progression patterns by age and gender. Model selection is based on Akaike Information Criterion (AIC) and Bayesian Information Criterion (BIC) to identify models best representing disease progression variability across demographic groups. The 3-Parameter Weibull model emerges as the most effective, accurately capturing HIV/AIDS progression dynamics, particularly by incorporating delayed progression effects. This model reflects age and gender-specific variations, offering refined insights into patient trajectories and facilitating targeted interventions. One key finding is that older patients progress more slowly through CD4-defined stages, with a delayed onset of advanced stages. This suggests that older patients may benefit from extended monitoring intervals, allowing providers to optimize resources while maintaining consistent care. Recognizing slower progression in this demographic helps clinicians reduce unnecessary interventions, prioritizing care for faster-progressing groups. Gender-based analysis reveals that female patients exhibit more consistent progression, while male patients show greater variability. This highlights the need for gender-specific treatment approaches, as men may require more frequent assessments and adaptive treatment plans to address their variable progression. Tailoring treatment by gender can improve outcomes by addressing distinct risk patterns in each group. The model’s ability to account for both accelerated and delayed progression equips clinicians with a robust tool for estimating the duration of each disease stage. This supports individualized treatment planning, allowing clinicians to optimize antiretroviral therapy (ART) regimens based on demographic factors and expected disease trajectories. Aligning ART timing with specific progression patterns can enhance treatment efficacy and adherence. The model also has significant implications for healthcare systems, as its predictive accuracy enables proactive patient management, reducing the frequency of advanced-stage complications. For resource limited providers, this capability facilitates strategic intervention timing, ensuring that high-risk patients receive timely care while resources are allocated efficiently. Anticipating progression stages enhances both patient care and resource management, reinforcing the model’s value in supporting sustainable HIV/AIDS healthcare strategies. This study underscores the importance of models that capture the complexities of HIV/AIDS progression, offering insights to guide personalized, data-informed care. The 3-Parameter Weibull model’s ability to accurately reflect delayed progression and demographic risk variations presents a valuable tool for clinicians, supporting the development of targeted interventions and resource optimization in HIV/AIDS management.

Keywords: HIV/AIDS progression, 3-parameter Weibull model, CD4 cell count stages, antiretroviral therapy, demographic-specific modeling

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Authors: Vivian Franco

Abstract:

There has been a great deal of research about vowel production of second language learners of Spanish, vowel variation across Spanish dialects, and more recently, research related to Spanish heritage speakers’ vowel production based on speech style. However, there is little investigation reported on Spanish heritage speakers’ vowel production in regard to task modality by incorporating own comparison groups of monolinguals and late bilinguals. Thus, the present study investigates the influence of speech style on Spanish heritage speakers’ vowel production by comparing Spanish-English early and late bilinguals and Spanish monolinguals. The study was guided by the following research question: How do early bilinguals (heritage speakers) differ/relate to advanced L2 speakers of Spanish (late bilinguals) and Spanish monolinguals in their vowel quality (acoustic distribution) and quantity (duration) based on speech style? The participants were a total of 11 speakers of Spanish: 7 early Spanish-English bilinguals with a similar linguistic background (simultaneous bilinguals of the second generation); 2 advanced L2 speakers of Spanish; and 2 Spanish monolinguals from Mexico. The study consisted of two tasks. The first one adopted a semi-spontaneous style by a solicited narration of life experiences and a description of a favorite movie with the purpose to collect spontaneous speech. The second task was a reading activity in which the participants read two paragraphs of a Mexican literary essay 'La nuez.' This task aimed to obtain a more controlled speech style. From this study, it can be concluded that early bilinguals and monolinguals show a smaller formant vowel space overall compared to the late bilinguals in both speech styles. In terms of formant values by stress, the early bilinguals and the late bilinguals resembled in the semi-spontaneous speech style as their unstressed vowel space overlapped with that of the unstressed vowels different from the monolinguals who displayed a slightly reduced unstressed vowel space. For the controlled data, the early bilinguals were similar to the monolinguals as their stressed and unstressed vowel spaces overlapped in comparison to the late bilinguals who showed a more clear reduction of unstressed vowel space. In regard to stress, the monolinguals revealed longer vowel duration overall. However, findings of duration by stress showed that the early bilinguals and the monolinguals remained stable with shorter values of unstressed vowels in the semi-spontaneous data and longer duration in the controlled data when compared to the late bilinguals who displayed opposite results. These findings suggest an implication for Spanish heritage speakers and L2 Spanish vowels research as it has been frequently argued that Spanish bilinguals differ from the Spanish monolinguals by their vowel reduction and centralized vowel space influenced by English. However, some Spanish varieties are characterized by vowel reduction especially in certain phonetic contexts so that some vowels present more weakening than others. Consequently, it would not be conclusive to affirm an English influence on the Spanish of these bilinguals.

Keywords: Spanish-English bilinguals, Spanish monolinguals, spontaneous and controlled speech, vowel production.

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Authors: Tatiana Butkova, Nikolai Kibrik, Kristina Malsagova, Alexander Izotov, Alexander Stepanov, Anna Kaysheva

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Relevance. The genetic risk of developing schizophrenia is determined by two factors: single nucleotide polymorphisms and gene copy number variations. The search for serological markers for early diagnosis of schizophrenia is driven by the fact that the first five years of the disease are accompanied by significant biological, psychological, and social changes. It is during this period that pathological processes are most amenable to correction. The aim of this study was to analyze single nucleotide polymorphisms (SNPs) that are hypothesized to potentially influence the onset and development of the endogenous process. Materials and Methods It was analyzed 73 single nucleotide polymorphism variants. The study included 48 patients undergoing inpatient treatment at "Psychiatric Clinical Hospital No. 1" in Moscow, comprising 23 females and 25 males. Inclusion criteria: - Patients aged 18 and above. - Diagnosis according to ICD-10: F20.0, F20.2, F20.8, F21.8, F25.1, F25.2. - Voluntary informed consent from patients. Exclusion criteria included: - The presence of concurrent somatic or neurological pathology, neuroinfections, epilepsy, organic central nervous system damage of any etiology, and regular use of medication. - Substance abuse and alcohol dependence. - Women who were pregnant or breastfeeding. Clinical and psychopathological assessment was complemented by psychometric evaluation using the PANSS scale at the beginning and end of treatment. The duration of observation during therapy was 4-6 weeks. Total DNA extraction was performed using QIAamp DNA. Blood samples were processed on Illumina HiScan and genotyped for 652,297 markers on the Infinium Global Chips Screening Array-24v2.0 using the IMPUTE2 program with parameters Ne=20,000 and k=90. Additional filtration was performed based on INFO>0.5 and genotype probability>0.5. Quality control of the obtained DNA was conducted using agarose gel electrophoresis, with each tested sample having a volume of 100 µL. Results. It was observed that several SNPs exhibited gender dependence. We identified groups of single nucleotide polymorphisms with a membership of 80% or more in either the female or male gender. These SNPs included rs2661319, rs2842030, rs4606, rs11868035, rs518147, rs5993883, and rs6269.Another noteworthy finding was the limited combination of SNPs sufficient to manifest clinical symptoms leading to hospitalization. Among all 48 patients, each of whom was analyzed for deviations in 73 SNPs, it was discovered that the combination of involved SNPs in the manifestation of pronounced clinical symptoms of schizophrenia was 19±3 out of 73 possible. In study, the frequency of occurrence of single nucleotide polymorphisms also varied. The most frequently observed SNPs were rs4849127 (in 90% of cases), rs1150226 (86%), rs1414334 (75%), rs10170310 (73%), rs2857657, and rs4436578 (71%). Conclusion. Thus, the results of this study provide additional evidence that these genes may be associated with the development of schizophrenia spectrum disorders. However, it's impossible cannot rule out the hypothesis that these polymorphisms may be in linkage disequilibrium with other functionally significant polymorphisms that may actually be involved in schizophrenia spectrum disorders. It has been shown that missense SNPs by themselves are likely not causative of the disease but are in strong linkage disequilibrium with non-functional SNPs that may indeed contribute to disease predisposition.

Keywords: gene polymorphisms, genotyping, single nucleotide polymorphisms, schizophrenia.

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Authors: Serena Gomez, Raeesa Tanseen, Netra Shaligram, Nithin Francis, Sandesh B. J.

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The human gut consists of a community of microbes which has a lot of effects on human health disease. Metabolic modeling can help to predict relative populations of stable microbes and their effect on health disease. In order to study and visualize microbes in the human gut, we developed a tool that offers the following modules: Build a tool that can be used to perform Flux Balance Analysis for microbes in the human gut using the Artificial Bee Colony optimization algorithm. Run simulations for an individual microbe in different conditions, such as aerobic and anaerobic and visualize the results of these simulations.

Keywords: microbes, metabolic modeling, flux balance analysis, artificial bee colony

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Authors: Hamidreza Jahani, Zahra Salehzadeh, Ehsan Amini, Mohsen Tohidifar

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Calvarial Hyperostosis Syndrome (CHS) is a benign bone disease of the skull. It is a non-neoplastic and proliferative bone disease, and the main feature of the disease is progressive and asymmetrical bone involvement. CHS is mostly reported in young male and female bullmastiff dogs and less frequently in other breeds. The etiology of CHS is unknown. This is the first case report of CHS in Iran. A 3-month-old male Persian Mastiff was presented with chief complaints of multiple episodes of seizure, pacing, bizarre behavior, delayed growth, head pressing, and difficulty in opening the mouth. Central blindness and open fontanelles were observed in clinical examination. No abnormality was found in the complete blood count and routine blood biochemical tests. CT scan findings include cortical thickening of frontal and parietal bones and enlargement of the left retropharyngeal lymph node. For treatment, oral clindamycin for two weeks, prednisolone and phenobarbital for one month, respectively, were administrated, and the case showed improvement after a week and recovered after one month.

Keywords: calvarial hyperostosis, Persian Mastiff, frontal bone, seizure

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Authors: Irfan Abdulrahman Sheth, Sohil Pothiawala

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Dermatomyositis is an idiopathic inflammatory myopathy, traditionally characterized by a progressive, symmetrical proximal muscle weakness and pathognomonic or characteristic cutaneous manifestations. We report a case of a 60-year old Chinese female who was referred from polyclinic for allergic rash over the body after applying hair dye 3 weeks ago. It was associated with puffiness of face, shortness of breath and hoarse voice since last 2 weeks with decrease effort tolerance. She also complained of dysphagia/ myalgia with progressive weakness of proximal muscles and palpitations. She denied chest pain, loss of appetite, weight loss, orthopnea or fever. She had stable vital signs and appeared cushingoid. She was noted to have rash over the scalp/ face and ecchymosis over the right arm with puffiness of face and periorbital oedema. There was symmetrical muscle weakness and other neurological examination was normal. Initial impression was of allergic reaction and underlying nephrotic syndrome and Cushing’s syndrome from TCM use. Diagnostic tests showed high Creatinine kinase (CK) of 1463 u/l, CK–MB of 18.7 ug/l and Troponin –T of 0.09 ug/l. The Full blood count and renal panel was normal. EMG showed inflammatory myositis. Patient was managed by rheumatologist and discharged on oral prednisolone with methotrexate/ ergocalciferol capsule and calcium carb, vitamin D tablets and outpatient follow up. In some patients, cutaneous disease exists in the absence of objective evidence of muscle inflammation. Management of dermatomyositis begins with careful investigation for the presence of muscle disease or of additional systemic involvement, particularly of the pulmonary, cardiac or gastrointestinal systems, and for the possibility of an accompanying malignancy. Muscle disease and systemic involvement can be refractory and may require multiple sequential therapeutic interventions or, at times, combinations of therapies. Thus, we want to highlight to the physicians that the cutaneous disease of dermatomyositis should not be confused with allergic reaction. It can be particularly challenging to diagnose. Early recognition aids appropriate management of this group of patients.

Keywords: dermatomyositis, myopathy, allergy, cutaneous disease

Procedia PDF Downloads 336