Search results for: genetic diagnosis

Authors: Daphine Namara, Jeremy I. Schwartz, Andrew K. Tusubira, Willi McFarland, Caroline Birungi, Fred C. Semitala, Martin Muddu

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Emerging evidence suggests a possible association between hyperglycemia and dolutegravir (DTG), a preferred first-line antiretroviral agent in sub-Saharan Africa (SSA). There is a need for rigorous studies to validate this association in the face of increasing DTG use and the burden of non-communicable diseases among people living with HIV (PLHIV). We conducted a case-control study to assess the risk of hyperglycemia associated with the use of DTG among PLHIV attending Mulago ISS Clinic in Kampala. Cases had hyperglycemia, while controls had no hyperglycemia, as confirmed by fasting plasma glucose and oral glucose tolerance tests. Demographic, laboratory, and clinical data were collected using interviewer-administered questionnaires and medical record abstraction. The analysis compared cases and controls on DTG use prior to diagnosis of hyperglycemia while controlling for potential confounders using multivariable logistic regression. We included 204 cases and 231 controls. In multivariable analysis, patients with prior DTG use had seven times greater odds of subsequent diagnosis of hyperglycemia compared to those who had non-DTG-based regimens (adjusted odds ratio [aOR] 7.01, 95% CI 1.96-25.09). The odds of hyperglycemia also increased with age (56 years and above vs. 18-35, aOR 12.38, 95% CI 3.79-40.50) and hypertension (aOR 5.78, 95% CI 2.53-13.21). Our study demonstrates a strong association between prior DTG exposure and subsequent diagnosis of hyperglycemia. Given the benefits of DTG, wide-scale use, and the growing burden of diabetes mellitus (DM) in SSA, there is a need for systematic screening for hyperglycemia and consideration of alternate regimens for those at risk for DM.

Keywords: HIV, hyperglycemia, doluteravir, diabetes

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Authors: A. Boursali, A. Guen-Bouazza

Abstract:

We present a simulation of a HEMT (high electron mobility transistor) structure with and without a field plate. We extract the device characteristics through the analysis of DC, AC and high frequency regimes, as shown in this paper. This work demonstrates the optimal device with a gate length of 15 nm, InAlN/GaN heterostructure and field plate structure, making it superior to modern HEMTs when compared with otherwise equivalent devices. This improves the ability to bear the burden of the current density passes in the channel. We have demonstrated an excellent current density, as high as 2.05 A/m, a peak extrinsic transconductance of 0.59S/m at VDS=2 V, and cutting frequency cutoffs of 638 GHz in the first HEMT and 463 GHz for Field plate HEMT., maximum frequency of 1.7 THz, maximum efficiency of 73%, maximum breakdown voltage of 400 V, leakage current density IFuite=1 x 10-26 A, DIBL=33.52 mV/V and an ON/OFF current density ratio higher than 1 x 1010. These values were determined through the simulation by deriving genetic and Monte Carlo algorithms that optimize the design and the future of this technology.

Keywords: HEMT, silvaco, field plate, genetic algorithm, quantum

Procedia PDF Downloads 347

Authors: Rezky Rifaini, Raden Bagus Fajriya Hakim

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This research was conducted at the Bolo primary health Care in Bima Regency. The purpose of the research is to find out the association pattern that is formed of medical record database from Bolo Primary health care’s patient. The data used is secondary data from medical records database PHC. Sequential pattern mining technique is the method that used to analysis. Transaction data generated from Patient_ID, Check_Date and diagnosis. Sequential Pattern Discovery Algorithms Using Equivalent Classes (SPADE) is one of the algorithm in sequential pattern mining, this algorithm find frequent sequences of data transaction, using vertical database and sequence join process. Results of the SPADE algorithm is frequent sequences that then used to form a rule. It technique is used to find the association pattern between items combination. Based on association rules sequential analysis with SPADE algorithm for minimum support 0,03 and minimum confidence 0,75 is gotten 3 association sequential pattern based on the sequence of patient_ID, check_Date and diagnosis data in the Bolo PHC.

Keywords: diagnosis, primary health care, medical record, data mining, sequential pattern mining, SPADE algorithm

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Authors: Mercy Chepkirui, Paul Orina, Priscilla Boera, Judith Achoki

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Oreochromis jipe is a tropical freshwater bentho-pelagic fish belonging to the Cichlid family that is endemic to the Pangani River basin and Lake Jipe in Kenya and northern Tanzania, while Oreochromis niloticus inhabits the Lake Victoria basin with reported cases in Lake jipe too. Unlike O. jipe, Oreochromis niloticus is spreading across the globe due to its cultural potential. This, however, could cause genetic purity concerns in the event of cross-breeding among the tilapiines, which is already taking place in the wild. The study envisaged establishing the possibility of hybridization among the two species under aquaculture conditions and phenotypically informing the difference between pure and cross lines. Two hundred sixteen mature brooders weighing 100-120g were selected randomly, 108 of Oreochromis Jipe and 108 of Oreochromis niloticus; for each trial, 72 males and 144 females were distributed into 3 crosses, each grouped in triplicates (Oreochromis niloticus (♀) X Oreochromis niloticus(♂);Oreochromis niloticus (♂) X Oreochromis jipe ( ♀); Oreochromis jipe (♂) X Oreochromis niloticus (♀); Oreochromis jipe (♂) X Oreochromis jipe (♀). All trials had the F1 generation, which is currently undergoing growth trials and assessing its viability for the 2nd generation. The results indicated that Oreochromis niloticus has better growth, followed by crosses (Oreochromis niloticus X Oreochromis jipe) and, finally, pure line Oreochromis jipe. Further, pure Oreochromis jipe F1 demonstrated potential for aquaculture adoption despite its recent introduction into aquaculture; thus, this will help towards the conservation of indigenous fish species of Lake Jipe fishery, which is currently under the Internationa Union for Conservation of Nature Red List of endangered fish species. However, there is a need to inform the purity of existing Oreochromis jipe wild stocks to inform genetic material conservation.

Keywords: biodiversity, climate change, fisheries, oreochromis jipe, conservation

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Authors: Hala Alshamlan, Ghada Badr, Yousef Alohali

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Cancer is one of the dreadful diseases, which causes considerable death rate in humans. DNA microarray-based gene expression profiling has been emerged as an efficient technique for cancer classification, as well as for diagnosis, prognosis, and treatment purposes. In recent years, a DNA microarray technique has gained more attraction in both scientific and in industrial fields. It is important to determine the informative genes that cause cancer to improve early cancer diagnosis and to give effective chemotherapy treatment. In order to gain deep insight into the cancer classification problem, it is necessary to take a closer look at the proposed gene selection methods. We believe that they should be an integral preprocessing step for cancer classification. Furthermore, finding an accurate gene selection method is a very significant issue in a cancer classification area because it reduces the dimensionality of microarray dataset and selects informative genes. In this paper, we classify and review the state-of-art gene selection methods. We proceed by evaluating the performance of each gene selection approach based on their classification accuracy and number of informative genes. In our evaluation, we will use four benchmark microarray datasets for the cancer diagnosis (leukemia, colon, lung, and prostate). In addition, we compare the performance of gene selection method to investigate the effective gene selection method that has the ability to identify a small set of marker genes, and ensure high cancer classification accuracy. To the best of our knowledge, this is the first attempt to compare gene selection approaches for cancer classification using microarray gene expression profile.

Keywords: gene selection, feature selection, cancer classification, microarray, gene expression profile

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Authors: Yagahira E. Castro-Sesquen, Chloe Kim, Robert H. Gilman, David J. Sullivan, Peter C. Searson

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Diagnosis of severe malaria is particularly important in highly endemic regions since most patients are positive for parasitemia and treatment differs from non-severe malaria. Diagnosis can be challenging due to the prevalence of diseases with similar symptoms. Accurate diagnosis is increasingly important to avoid overprescribing antimalarial drugs, minimize drug resistance, and minimize costs. A nanoparticle-based assay for detection and quantification of Plasmodium falciparum histidine-rich protein 2 (HRP2) in urine and serum is reported. The assay uses magnetic beads conjugated with anti-HRP2 antibody for protein capture and concentration, and antibody-conjugated quantum dots for optical detection. Western Blot analysis demonstrated that magnetic beads allows the concentration of HRP2 protein in urine by 20-fold. The concentration effect was achieved because large volume of urine can be incubated with beads, and magnetic separation can be easily performed in minutes to isolate beads containing HRP2 protein. Magnetic beads and Quantum Dots 525 conjugated to anti-HRP2 antibodies allows the detection of low concentration of HRP2 protein (0.5 ng mL-1), and quantification in the range of 33 to 2,000 ng mL-1 corresponding to the range associated with non-severe to severe malaria. This assay can be easily adapted to a non-invasive point-of-care test for classification of severe malaria.

Keywords: HRP2 protein, malaria, magnetic beads, Quantum dots

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Authors: Z. Kourdi, B. Bouazza, M. Khaouani, A. Guen-Bouazza, Z. Djennati, A. Boursali

Abstract:

We present a simulation of a HEMT (high electron mobility transistor) structure with and without a field plate. We extract the device characteristics through the analysis of DC, AC and high frequency regimes, as shown in this paper. This work demonstrates the optimal device with a gate length of 15 nm, InAlN/GaN heterostructure and field plate structure, making it superior to modern HEMTs when compared with otherwise equivalent devices. This improves the ability to bear the burden of the current density passes in the channel. We have demonstrated an excellent current density, as high as 2.05 A/mm, a peak extrinsic transconductance of 590 mS/mm at VDS=2 V, and cutting frequency cutoffs of 638 GHz in the first HEMT and 463 GHz for Field plate HEMT., maximum frequency of 1.7 THz, maximum efficiency of 73%, maximum breakdown voltage of 400 V, DIBL=33.52 mV/V and an ON/OFF current density ratio higher than 1 x 1010. These values were determined through the simulation by deriving genetic and Monte Carlo algorithms that optimize the design and the future of this technology.

Keywords: HEMT, Silvaco, field plate, genetic algorithm, quantum

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Authors: Parsa Sheikhzadeh

Abstract:

Polar bodies are cells that form by oogenesis in meiosis which differentiate and develop from oocytes. Although in many animals, these cells often die following meiotic maturation of the oocyte. Oocyte activation is during mammalian fertilization, sperm is fused with the oocyte's membrane, triggering the resumption of meiosis from the metaphase II arrest, the extrusion of the second polar body, and the exocytosis of cortical granules. The origin recognition complex proteins 4 (ORC4) forms a cage around the set of chromosomes that will be extruded during polar body formation before it binds to the chromatin shortly before zygotic DNA replication. One unique feature of the female gamete is that the polar bodies can provide beneficial information about the genetic background of the oocyte without potentially destroying it. Testing at the polar body (PB) stage was the least accurate, mainly due to the high incidence of post-zygotic events. On the other hand, the results from PB1-MII oocyte pair validated that PB1 contains nearly the same methylome (average Pearson correlation is 0.92) with sibling MII oocyte. In this article, we comprehensively examine the role of polar bodies in female human gametes.

Keywords: polar bodies, ORC4, oocyte, genetic, methylome, gamete, female

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Authors: Mandeep Kaur, Fatehgarh Sahib

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The purpose of economic load dispatch is to allocate the required load demand between the available generation units such that the cost of operation is minimized. It is an optimization problem to find the most economical schedule of the generating units while satisfying load demand and operational constraints. The multiobjective optimization problem in which the engineer’s goal is to maximize or minimize not a single objective function but several objective functions simultaneously. The purpose of multiobjective problems in the mathematical programming framework is to optimize the different objective functions. Many approaches and methods have been proposed in recent years to solve multiobjective optimization problems. Weighting method has been applied to convert multiobjective optimization problems into scalar optimization. MATLAB 7.10 has been used to write the code for the complete algorithm with the help of genetic algorithm (GA). The validity of the proposed method has been demonstrated on a three-unit power system.

Keywords: economic load dispatch, genetic algorithm, generating units, multiobjective optimization, weighting method

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Authors: Mohammad Ali Fteiha, Ghanem Al Bustami

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The study aimed to identify the assessment of parents of children with Autism for services provided by the Center for special care in the United Arab Emirates, in terms of quality, comprehensive and the impact of some factors related to the diagnosis and place of service provision and efficient working procedures of service and the child age. In order to achieve the objective of the study, researchers used Parent’s Satisfaction Scale, and Parents Evaluation of Services Effectiveness, both the scale and the parents reports provided with accepted level of validity and reliability. Sample includes 300 families of children with Autism receiving educational and rehabilitation services, treatment and support services in both governmental and private centers in United Arab Emirates. ANOVA test was used through SPSS program to analyze the collected data. The results of the study have indicated that there are significant differences in the assessment of services provided by centers due to a place of service, the nature of the diagnosis, child's age at the time of the study, as well as statistically significance differences due to age when first diagnosed. The results also showed positive evaluation for the good level of services as international standard, and the quality of these services provided by autism centers in the United Arab Emirates, especially in governmental centers. At the same time, the results showed the presence of many needs problems faced by the parents do not have appropriate solutions. Based on the results the recommendations were stated.

Keywords: autism, evaluation, diagnosis, parents, autism programs, supportive services, government centers, private centers

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Authors: Ayesha Imtiaz, Darlina Md. Naim

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Family Nemipteridae is among the most abundantly distributed family in Malaysian fish markets due to its high contribution to landing sites of Malaysia. Using an advanced molecular approach that used two mitochondrial (Cytochrome oxidase c I and Cytochrome oxidase b) and one nuclear gene (Recombination activating gene, RAGI) to expose cryptic diversity and phylogenetic relationships among commercially important species of family Nemipteridae. Our research covered all genera (including 31 species out total 45 species) of family Nemipteridae, distributed in Malaysia. We also found certain type of geographical barriers in the South China sea that reduces dispersal and stops a few species to intermix. Northside of the South China Sea (near Vietnam) does not allow genetic diversity to mix with the Southern side of the South China sea (Sarawak) and reduces dispersal. Straits of Malacca reduce the intermixing genetic diversity of South China Sea and the Indian Ocean.

Keywords: Nemipteridae, RAG I, south east Asia, Malaysia

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Authors: Padma Chutoo, Elena Kulinskaya, Ilyas Bakbergenuly, Nicholas Steel, Dmitri Pchejetski

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Stroke is associated with a significant risk of morbidity and mortality. There is scarcity of research on the long-term survival after first-ever ischaemic stroke (IS) events in England with regards to effects of different medical therapies and comorbidities. The objective of this study was to model the all-cause mortality after an IS diagnosis in the adult population of England. Using a retrospective case-control design, we extracted the electronic medical records of patients born prior to or in year 1960 in England with a first-ever ischaemic stroke diagnosis from January 1986 to January 2017 within the Health and Improvement Network (THIN) database. Participants with a history of ischaemic stroke were matched to 3 controls by sex and age at diagnosis and general practice. The primary outcome was the all-cause mortality. The hazards of the all-cause mortality were estimated using a Weibull-Cox survival model which included both scale and shape effects and a shared random effect of general practice. The model included sex, birth cohort, socio-economic status, comorbidities and medical therapies. 20,250 patients with a history of IS (cases) and 55,519 controls were followed up to 30 years. From 2008 to 2015, the one-year all-cause mortality for the IS patients declined with an absolute change of -0.5%. Preventive treatments to cases increased considerably over time. These included prescriptions of statins and antihypertensives. However, prescriptions for antiplatelet drugs decreased in the routine general practice since 2010. The survival model revealed a survival benefit of antiplatelet treatment to stroke survivors with hazard ratio (HR) of 0.92 (0.90 – 0.94). IS diagnosis had significant interactions with gender and age at entry and hypertension diagnosis. IS diagnosis was associated with high risk of all-cause mortality with HR= 3.39 (3.05-3.72) for cases compared to controls. Hypertension was associated with poor survival with HR = 4.79 (4.49 - 5.09) for hypertensive cases relative to non-hypertensive controls, though the detrimental effect of hypertension has not reached significance for hypertensive controls, HR = 1.19(0.82-1.56). This study of English primary care data showed that between 2008 and 2015, the rates of prescriptions of stroke preventive treatments increased, and a short-term all-cause mortality after IS stroke declined. However, stroke resulted in poor long-term survival. Hypertension, a modifiable risk factor, was found to be associated with poor survival outcomes in IS patients. Antiplatelet drugs were found to be protective to survival. Better efforts are required to reduce the burden of stroke through health service development and primary prevention.

Keywords: general practice, hazard ratio, health improvement network (THIN), ischaemic stroke, multiple imputation, Weibull-Cox model.

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Authors: Mohammed Alasel, Michael Keusgen

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Gold is a noble metal; in its nano-scale level (e.g. spherical nanoparticles), the conduction electrons are triggered to collectively oscillate with a resonant frequency when certain wavelengths of electromagnetic radiation interact with its surface; this phenomenon is known as surface plasmon resonance (SPR). SPR is responsible for giving the gold nanoparticles its intense red color depending mainly on its size, shape and distance between nanoparticles. A decreased distance between gold nanoparticles results in aggregation of them causing a change in color from red to blue. This aggregation enables gold nanoparticles to serve as a sensitive biosensoric indicator. In the proposed work, gold nanoparticles were modified with two proteins: i) Borrelia antigen, variable lipoprotein surface-exposed protein (VlsE), and ii) protein A. VlsE antigen induces a strong antibody response against Lyme disease and can be detected from early to late phase during the disease in humans infected with Borrelia. In addition, it shows low cross-reaction with the other non-pathogenic Borrelia strains. The high specificity of VlsE antigen to anti-Borrelia antibodies, combined simultaneously with the high specificity of protein A to the Fc region of all IgG human antibodies, was utilized to develop a rapid test for serological point of care diagnosis of borreliosis in human serum. Only in the presence of anti-Borrelia antibodies in the serum probe, an aggregation of gold nanoparticles can be observed, which is visible by a concentration-dependent colour shift from red (low IgG) to blue (high IgG). Experiments showed it is clearly possible to distinguish between positive and negative sera samples using a simple suspension of the two-protein modified gold nanoparticles in a very short time (30 minutes). The proposed work showed the potential of using such modified gold nanoparticles generally for serological diagnosis. Improved specificity and reduced assay time can be archived in applying increased salt concentrations combined with decreased pH values (pH 5).

Keywords: gold nanoparticles, gold aggregation, serological diagnosis, protein A, lyme borreliosis

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Authors: Daniela Proca, Yuan Rong, Salvatore Luceno, Jalil Nasibli

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Introduction: Solitary Fibrous Tumors (SFT) have many histologic mimickers and the only way to diagnose it, particularly in an unusual location, such as peripheral nerve trunks, is to use a comprehensive immunohistochemical staining panel. Monoclonal STAT6 immunostain is highly sensitive and specific for SFTs and particularly useful in the diagnosis of difficult SFT cases. Methods: We describe a solitary fibrous tumor (SFT) involving the right branchial plexus in a 66 yo female with 4-year history of slowly growing chest wall mass with recent dysesthesias in fingers 4th and 5th. MRI showed a well-circumscribed heterogenous mass measuring 5.4 x 3.8 x 4.0 cm and encircling peripheral nerves of the branchial plexus; no involvement of the bone or muscle was noted. A biopsy showed a bland spindled and epithelioid proliferation with no significant mitotic activity, no necrosis, and no atypia; peripheral nerve fascicles were encircled by the lesion. The main clinical and pathologic differential diagnosis included peripheral nerve sheath tumor, particularly schwannoma; HE microscopy didn’t show the classic Antoni A and B areas but showed focal subtle nuclear palisading, as well as prominent vessels with hyalinization. Immunohistochemical stains showed focal, weak cytoplasmic S100 positivity in the lesion; CD 34 and Vimentin were strongly and diffusely positive; the neoplastic cells were negative with AE1/AE3, EMA, CD31, SMA, Desmin, Calretinin, HMB-45, Melan A, PAX-8, NSE. The immunohistochemical and histologic pattern was not typical of peripheral nerve sheath tumor. On additional stains, the tumor was positive with STAT-6 and bcl-2 and focally positive with CD99. Given this profile, the final diagnosis was that of a solitary fibrous tumor. Results: NA Conclusion: Very few SFTs involving peripheral nerves and mimicking a peripheral nerve sheath tumor are described in the literature. Although histologically benign on this biopsy, long-term follow-up is required because of the risk of recurrence of these tumors and their uncertain biological behavior.

Keywords: solitary fibrous tumor, pathology, diagnosis, immunohistochemistry

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Authors: Sanjeev Kumar Shukla, Govind Singh, Prabhat Pant Shahzad Ahmad

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Background: Graves’ disease is an autoimmune disorder with a genetic predisposition, and CD40 plays a pathogenic role in various autoimmune diseases. A single nucleotide polymorphism at position –1 of the Kozak sequence of the 5 untranslated regions of the CD40 gene of exon 1 has been reported to be associated with the development of Graves’ Disease. Objective: The aim of the present study was to investigate whether CD40 gene polymorphism confers susceptibility to Graves’ disease in the Kumaon region. CD40 gene polymorphisms were studied in Graves’ Disease patients (n=50) and healthy control subjects without anti-thyroid autoantibodies or a family history of autoimmune disorders (n=50). Material and Method: CD40 gene polymorphisms were studied in fifty Graves’ Disease patients and fifty healthy control subjects. All samples were collected from STG Hospital, Haldwani, Nainital. A C/T polymorphism at position –1 of the CD40 gene was measured using the polymerase chain reaction-restriction fragment length polymorphism. Results: There was no significant difference in allele or genotype frequency of the CD40 SNP between Graves’ Disease and control subjects. There was a significant decrease in the TT genotype frequency in the Graves’ Disease patients who developed Graves’ Disease after 40 years old than those under 40 years of age. These data suggest that the SNP of the CD40 gene is associated with susceptibility to the later onset of Graves’ Disease. Conclusion: The CD40 gene was a different susceptibility gene for Graves’ Disease within certain families because it was both linked and associated with Graves’ Disease.

Keywords: autoimmune diseases, pathogenesis, diagnosis, therapy

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Authors: Hidayah Triana, Mahir S. Gani, Asmi Citra Malina, Hamka

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This study was conducted to determine genetic diversity of tiger groupers that are resistant to V. parahaemolyticus and tolerant to low extreme salinities. This research is useful to obtain superior broodstock of fish. Tiger grouper used were 6 to 8 cm obtained from Brackish Water Aquaculture Research Center Gondol (Bali). This study consists of four stages: preliminary stage was adaptation of fish exposed to several concentrations of V. parahaemolyticus (103, 104, 105, 106, and 107 CFU / ml); second stage was test of Lethal Concentration (LC50) of bacteria to fish; third stage was salinity tolerance test (low salinity 12, 14 and 16 ppt) and fourth stage was analysis of DNA profiles. For DNA profiles analysis, genomic DNA of fish were extracted for PCR using primers YNZ-22 and UBC-122 and visualized by electrophoresis method. The results showed that Lethal concentration of bacteria (LC50) to fish was 1,56x106 CFU/ml. Furthermore, survival rate of groupers exposed with low salinities (12, 14, 16 ppt) survival rates were found to be 54,17 %, 66,67 % and 79,16 % respectively. Average of DNA fragment (5 fragments) generated from primer UBC-122 in the group of fish resistant to V.parahaemolyticus and tolerant to low salinities was similar to group of susceptible to low salinities. Primer YNZ-22 generated more diverse of DNA fragments (8,0 and 5,8 fragments) both in the group of fish tolerant and susceptible to low salinities compared to primer UBC-122 (5,0 fragments). Size of DNA 1.5 kb resulted from primer YNZ-22. Primer YNZ-22 generated 4 (50 %) and 3 (42,8 %) polymorfic fragments in the group of fish tolerant and susceptible to low salinities, respectively. Four (4) monomorfic fragments were found both in the group of fish tolerant and susceptible to low salinities. Primer UBC-122 generated 6 (85,7 %) and 9 (90,0 %) polymorfic fragments in the fish tolerant and susceptible to low salinities, respectively.

Keywords: genetic diversity, epinephelus fuscoguttatus, V. parahaemolyticus, PCR-RAPD, low extreme salinity

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Authors: D. J. Kalita

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Cancer is one of the prime causes of early death worldwide. Mutation of the gene involve in DNA repair and damage, like BRCA2 (Breast cancer gene two) genes, can be detected efficiently by PCR-RFLP to early breast cancer diagnosis and adopt the suitable method of treatment. Host Defense Peptide can be used as blueprint for the design and synthesis of novel anticancer drugs to avoid the side effect of conventional chemotherapy and chemo resistance. The change at nucleotide position 392 of a -› c in the cancer sample of dog mammary tumour at BRCA2 (exon 7) gene lead the creation of a new restriction site for SsiI restriction enzyme. This SNP may be a marker for detection of canine mammary tumour. Support vector machine (SVM) algorithm was used to design and predict the anticancer peptide from the mature functional peptide. MTT assay of MCF-7 cell line after 48 hours of post treatment showed an increase in the number of rounded cells when compared with untreated control cells. The ability of the synthesized peptide to induce apoptosis in MCF-7 cells was further investigated by staining the cells with the fluorescent dye Hoechst stain solution, which allows the evaluation of the nuclear morphology. Numerous cells with dense, pyknotic nuclei (the brighter fluorescence) were observed in treated but not in control MCF-7 cells when viewed using an inverted phase-contrast microscope. Thus, PCR-RFLP is one of the attractive approach for early diagnosis, and synthetic cationic peptide can be used for the treatment of canine mammary tumour.

Keywords: cancer, cationic peptide, host defense peptides, Breast cancer genes

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Authors: Germans Natuhwera, Peter Ellis, Acuda Wilson, Anne Merriman, Martha Rabwoni

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Objective: The aim of the study was to diagnose the socio-economic burden and impact of a diagnosis of cervical cancer (CC) in rural women in the context of low-resourced country Uganda, using a phenomenological enquiry. Methods: This was a multi-site phenomenological inquiry, conducted at three hospice settings; Mobile Hospice Mbarara in southwestern, Little Hospice Hoima in Western, and Hospice Africa Uganda Kampala in central Uganda. A purposive sample of women with a histologically confirmed diagnosis of CC was recruited. Data was collected using open-ended audio-recorded interviews conducted in the native languages of participants. Interviews were transcribed verbatim in English, and Braun and Clarke’s (2019) framework of thematic analysis was used. Results: 13 women with a mean age of 49.2 and age range 29-71 participated in the study. All participants were of low socioeconomic status. The majority (84.6%) had advanced disease at diagnosis. A fuller reading of transcripts produced four major themes clustered under; (1) socioeconomic characteristics of women, (2) impact of CC on women’s relationships, (3) disrupted and impaired activities of daily living (ADLs), and (4) economic disruptions. Conclusions: A diagnosis of CC introduces significant socio-economic disruptions in a woman’s and her family’s life. CC causes disability, impairs the woman and her family’s productivity hence exacerbating levels of poverty in the home. High and expensive out-of-pocket expenditure on treatment, investigations, and transport costs further compound the socio-economic burden. Decentralizing cancer care services to regional centers, scaling up screening services, subsidizing costs of cancer care services, or making cervical cancer care treatment free of charge, strengthening monitoring mechanisms in public facilities to curb the vice of healthcare workers soliciting bribes from patients, increased mass awareness campaigns about cancer, training more healthcare professionals in cancer investigation and management, and palliative care, and introducing an introductory course on gynecologic cancers into all health training institutions are recommended.

Keywords: activities of daily living, cervical cancer, out-of-pocket, expenditure, phenomenology, socioeconomic

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Authors: Nouira Mariem, Ben Rayana Hazem, Ennigrou Samir

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Background and aim: During the past decade, the frequency of extrapulmonary forms of tuberculosis has increased. These forms are under-diagnosed using conventional tests. The aim of this study was to evaluate the performance of the Tuberculin Skin Test (TST) for the diagnosis of tuberculosis, using the ROC curve and Fagan’s Nomogram methodology. Methods: This was a case-control, multicenter study in 11 anti-tuberculosis centers in Tunisia, during the period from June to November2014. The cases were adults aged between 18 and 55 years with confirmed tuberculosis. Controls were free from tuberculosis. A data collection sheet was filled out and a TST was performed for each participant. Diagnostic accuracy measures of TST were estimated using ROC curve and Area Under Curve to estimate sensitivity and specificity of a determined cut-off point. Fagan’s nomogram was used to estimate its predictive values. Results: Overall, 1053 patients were enrolled, composed of 339 cases (sex-ratio (M/F)=0.87) and 714 controls (sex-ratio (M/F)=0.99). The mean age was 38.3±11.8 years for cases and 33.6±11 years for controls. The mean diameter of the TST induration was significantly higher among cases than controls (13.7mm vs.6.2mm;p=10-6). Area Under Curve was 0.789 [95% CI: 0.758-0.819; p=0.01], corresponding to a moderate discriminating power for this test. The most discriminative cut-off value of the TST, which were associated with the best sensitivity (73.7%) and specificity (76.6%) couple was about 11 mm with a Youden index of 0.503. Positive and Negative predictive values were 3.11% and 99.52%, respectively. Conclusion: In view of these results, we can conclude that the TST can be used for tuberculosis diagnosis with a good sensitivity and specificity. However, the skin induration measurement and its interpretation is operator dependent and remains difficult and subjective. The combination of the TST with another test such as the Quantiferon test would be a good alternative.

Keywords: tuberculosis, tuberculin skin test, ROC curve, cut-off

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Authors: Doreen Duri, Danai Zhou, Babil Stray-Pedersen, Collet Dandara

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Given the high prevalence of HIV/AIDS in sub-Saharan Africa, and the elusive search for a cure, understanding the pharmacogenetics of currently used drugs is critical in populations from the most affected regions. Compared to Asian and Caucasian populations, African population groups are more genetically diverse, making it difficult to extrapolate findings from one ethnic group to another. This study aimed to investigate the role of genetic variation in CYP2B6 (c.516G>T and c.983T>C) single nucleotide polymorphisms on plasma nevirapine levels among HIV-infected adult Zimbabwean patients. Using a cross-sectional study, patients on nevirapine-containing HAART, having reached steady state (more than six weeks on treatment) were recruited to participate. Blood samples were collected after patients provided consent and samples were used to extract DNA for genetic analysis or to measure plasma nevirapine levels. Genetic analysis was carried out using PCR and RFLP or Snapshot for the two single nucleotide polymorphisms; CYP2B6 c.516G>T and c.983T>C, while LC-MS/MS was used in analyzing nevirapine concentration. CYP2B6 c.516G>T and c.983T>C significantly predicted plasma nevirapine concentration with the c.516T and c.983T being associated with elevated plasma nevirapine concentrations. Comparisons of the variant allele frequencies observed in this group to those reported in some African, Caucasian and Asian populations showed significant differences. We conclude that pharmacogenetics of nevirapine can be creatively used to determine patients who are likely to develop nevirapine-associated side effects as well as too low plasma concentrations for viral suppression.

Keywords: allele frequencies, genetically diverse, nevirapine, single nucleotide polymorphism

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Authors: Junyou Shi, Weiwei Cui

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Testability modeling is a commonly used method in testability design and analysis of system. A dependency matrix will be obtained from testability modeling, and we will give a quantitative evaluation about fault detection and isolation. Based on the dependency matrix, we can obtain the diagnosis tree. The tree provides the procedures of the fault detection and isolation. But the dependency matrix usually includes built-in test (BIT) and manual test in fact. BIT runs the test automatically and is not limited by the procedures. The method above cannot give a more efficient diagnosis and use the advantages of the BIT. A Comprehensive method of fault detection and isolation is proposed. This method combines the advantages of the BIT and Manual test by splitting the matrix. The result of the case study shows that the method is effective.

Keywords: fault detection, fault isolation, testability modeling, BIT

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Authors: Kunyaporn Pipithsangchan, Alongkorn Korntong, Assanee Songserm, Phatchara Piriyavinit, Saowanee Dechakampoo

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The Kingdom of Thailand is one of the South East Asian countries. From its area of 514,000 square kilometers (51 million ha), at least 18,000 plant species (8% of the world total) have been estimated to be found in the country. As a result, the conservation of plant genetic diversity, particularly food crops, is becoming important and is an assurance for the national food security. Department of Agriculture Genebank or DOA Genebank, Thailand is responsible for the conservation of plant germplasm by participating and accomplishing several collaborative projects both at national and international levels. Integrated Management System of Plant Genetic Resources or IMPGR is one of the most outstandingly successful cooperation. It is a multilateral project under the Asian Food and Agriculture Cooperation Initiative (AFACI) supported by the Rural Development Administration (RDA) of South Korea. The member countries under the project consist of 11 nations namely Bangladesh, Cambodia, Indonesia, Laos PDR, Mongolia, Nepal, Philippines, Sri Lanka, Thailand, Vietnam and South Korea. The project enabled the members to jointly address the global issues in plant genetic resource (PGR) conservation and strengthen their network in this aspect. The 1st phase of IMPGR project, entitled 'Collection, Conservation, Regeneration and Characterization of Cucurbitaceae and Solanaceae 2012-2014', comprises three main objectives that are: 1) To improve management in storage facilities, collection, and regeneration, 2) To improve linkage between Genebank and material sources (for regeneration), and 3) To improve linkage between Genebank and other field crop or/and horticultural research centers. The project was done for three years from 2012 to 2014. The activities of the project can be described as following details: In the 1st year, there were 9 target provinces for completing plant genetic resource survey and collection. 108 accessions of PGR were collected. In the 2nd year, PGR were continuously surveyed and collected from 9 provinces. The total number of collection was 140 accessions. In addition, the process of regeneration of 237 accessions collected from 1st and 2nd year was started at several sites namely Biotechnology Research and Development Office, Sukothai Horticultural Research Center, Tak Research, and Development Center and Nakhon Ratchasima Research and Development Center. In the 3rd year, besides survey and collection of 115 accessions from 9 target provinces, PGR characterization and evaluation were done for 206 accessions. Moreover, safety duplication of 253 PGR at the World Seed Vault, RDA, was also done according to Standard Agreement on Germplasm Safety Duplication between Department of Agriculture, Ministry of Agriculture and Cooperatives, the Kingdom of Thailand and the National Agrobiodiversity Center, Rural Development Administration of the Republic of Korea. The success of the 1st phase project led to the second phase which entitled 'Collection and Characterization for Effective Conservation of Local Capsicum spp., Solanum spp. and Lycopersicon spp. in Thailand 2015-2017'.

Keywords: characterization, conservation, DOA genebank, plant genetic resources

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Authors: Mohammadhadi Mirmohammadi, Reza Safian, Hossein Haddad

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This paper presents an innovative solution for complex multi-objective optimization problem which is a part of efforts toward maximizing rolling mill throughput and minimizing processing costs in tandem cold rolling. This computational intelligence based optimization has been applied to the rolling schedules of tandem cold rolling mill. This method involves the combination of two derivative-free optimization procedures in the form of nested loops. The first optimization loop is based on Improving Hit and Run method which focus on balance of power, force and reduction distribution in rolling schedules. The second loop is a real-coded genetic algorithm based optimization procedure which optimizes energy consumption and productivity. An experimental result of application to five stand tandem cold rolling mill is presented.

Keywords: derivative-free optimization, Improving Hit and Run method, real-coded genetic algorithm, rolling schedules of tandem cold rolling mill

Procedia PDF Downloads 693

Authors: Muhammad S. Sajid, Asim Shamim, Muhammad Nisar Khan, Ashfaq A. Chatta, Muhammad Saqib

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Goats (Capra hircus) are a valued asset for resource poor farmers globally. But the parasitic infection especially Haemonchus contortus (Trichostrongylid), impact the health and production of goats globally. The present study intended to evaluate resilient and resistance to Haemonchus contortus in indigenous goat breeds (Teddy and Beetal) of Punjab, Pakistan. Out of 60, 30 goats of each breed were divided into 6 groups and each group contain five goats. Two group of each breed received challenged infection with 12000 and 18000 L3 (third stage) larvae of Haemonchus contortus under two infection protocol that is early and trickle and remaining two group of each breed was kept as control. Resilient and resistance of each breed was then measured on the basis of their phenotypic markers like: faecal egg counts, packed cell volume, FAMACHA score system, body weight, total protein, albumin and worm count on 2nd, 4th, 6th, and 8th week of post infection. Variation in response of each goat breeds to Haemonchus contortus was observed. Teddy breed showed significant (P < 0.05)resistance as compared to Beetal. It is probably first attempt to report an evaluation of goat breed response towards Haemonchus contortus in Pakistan. It was concluded that Teddy goats have a greater genetic tendency to resist against to the Haemonchus contortus infection and this breed could be kept and bred from the economic point of view. Evaluation of genetic markers are like: gene, protein expression, Immunoglobulin, Histamines and interleukins determination are recommended for future studies which can be helpful to be fined resistant breed of goats.

Keywords: goat, beetal, teddy, haemonchus contortus, resistance, resilience, phenotypic markers

Procedia PDF Downloads 357

Authors: Arati Inamdar, Siddharth Bhattacharyya, Kester Haye

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Collision tumors are rare entities characterized by neoplasms of two different cell populations with distinct separating boundaries. Such tumors could be benign, malignant, or a combination of both. The exact mechanism of origin for collision tumors is predicted to be tumor heterogeneity or concurrent occurrence of neoplasm in the same organ. We present two cases of plasmacytoma presenting as a collision tumor, one with a tumor of hematological origin and another with a non-hematological origin, namely Chronic Lymphocytic Leukemia and Adenocarcinoma of the colon, respectively. The immunohistochemical stains and flowcytometry analysis performed on the specimens aided incorrect diagnosis. Interestingly, neoplastic cells of plasmacytoma in the first case demonstrated strong cytokeratin along with weak Epithelial Specific Antigen/ Epithelial cell adhesion molecule Monoclonal Antibody (MOC31) positivity, indicating that the tumor may influence the microenvironment of the tumor in the vicinity. Furthermore, the next-generation sequencing studies performed on the specimen with plasmacytoma and chronic lymphocytic lymphoma demonstrated BReast CAncer gene (BRCA2) and Tumor Necrosis Factor Alpha Induced Protein 3 (TNFAIP3) as a disease associated variants suggestive of risk for multiple tumors including collision tumors. Our reports highlight the unique collision tumors involving plasmacytoma, which have never been reported previously, as well as provide necessary insights about the underline genetic aberrations and tumor heterogeneity through sequencing studies and allow clonality assessment for subsequent tumors.

Keywords: BRCA2, collision tumor, chronic lymphocytic leukemia, plasmacytoma

Procedia PDF Downloads 184

Authors: Emad Askar, Eldesoky Elsoaly, Mohamed Kamel, Hisham Kamel

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The objective of this article is to improve the passive vibration damping of solar array (SA) used in space structures, by the effective application of numerical optimization. A case study of a SA is used for demonstration. A finite element (FE) model was created and verified by experimental testing. Optimization was then conducted by implementing the FE model with the genetic algorithm, to find the optimal placement of aluminum circular patches, to suppress the first two bending mode shapes. The results were verified using experimental testing. Finally, a parametric study was conducted using the FE model where patch locations, material type, and shape were varied one at a time, and the results were compared with the optimal ones. The results clearly show that through the proper application of FE modeling and numerical optimization, passive vibration damping of space structures has been successfully achieved.

Keywords: damping optimization, genetic algorithm optimization, passive vibration damping, solar array vibration damping

Procedia PDF Downloads 446

Authors: Holly D. Shan, Monique L. Bautista Neughebauer

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Sunscreen usage is emphasized in public health strategy as it reduces the risk of sunburns and skin cancers. This study aims to explore factors that influence sun protective behavior and outcomes. Data was received from the National Health Interview Survey (NHIS) 2020. Adults were asked how often they wore sunscreen when outside on a sunny day. Consistent use (“always”) of sunscreen, the incidence of sunburn within a year, and ever having a diagnosis of skin melanoma were compared by gender, race, and the diagnosis of anxiety, depression, and dementia. Individuals identifying as a mixed race were excluded. Statistical analysis was adjusted for large-scale surveys using STATA VSN 7.0, and a two-sided p<0.05 was considered significant. Of the 37,352 participants (53.18% females, 75.01% white, 10.49% black, 0.76% Indian Americans,5.60% Asian), 13.11% had a diagnosis of anxiety, 14.78% depression, and 0.84% dementia. Females wore sunscreen more often than males (24.72% vs. 10.91%, p<0.001). White individuals wore sunscreen most frequently; black individuals the least (17.37% vs. 6.49%, p<0.001). White individuals had the highest rate of sunburn (25.61%, p<0.001) and a history of skin melanoma (3.38%, p<0.001). Participants with anxiety, depression, and dementia all had statistically significantly decreased sunscreen use and increased frequency of sunburn compared to the general population. Only those with dementia had an increased incidence of skin melanoma (2.85% vs. 1.22%, p=0.009). Dermatologists and public health professionals should consider gender, race, and psychiatric comorbidities when counseling patients on sun protection.

Keywords: sun protective behavior, psychiatric disorder, melanoma, sunburn

Procedia PDF Downloads 87

Authors: F. Varga, Z. Liber, J. Jakše, A. Turudić, Z. Šatović, I. Radosavljević, N. Jeran, M. Grdiša

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Dalmatian pyrethrum (Tanacetum cinerariifolium (Trevir.) Sch. Bip.; Asteraceae), a source of the commercially dominant plant insecticide pyrethrin, is a species endemic to the eastern Adriatic. Genetic diversity of T. cinerariifolium was previously studied using amplified fragment length polymorphism (AFLP) markers. However, microsatellite markers (single sequence repeats - SSRs) are more informative because they are codominant, highly polymorphic, locus-specific, and more reproducible, and thus are most often used to assess the genetic diversity of plant species. Dalmatian pyrethrum is an outcrossing diploid (2n = 18) whose large genome size and high repeatability have prevented the success of the traditional approach to SSR markers development. The advent of next-generation sequencing combined with the specifically developed method recently enabled the development of, to the author's best knowledge, the first set of SSRs for genomic characterization of Dalmatian pyrethrum, which is essential from the perspective of plant genetic resources conservation. To evaluate the effectiveness of the developed SSR markers in genetic differentiation of Dalmatian pyrethrum populations, a preliminary genetic diversity study was conducted on 30 individuals from three geographically distinct natural populations in Croatia (northern Adriatic island of Mali Lošinj, southern Adriatic island of Čiovo, and Mount Biokovo) based on 12 SSR loci. Analysis of molecular variance (AMOVA) by randomization test with 10,000 permutations was performed in Arlequin 3.5. The average number of alleles per locus, observed and expected heterozygosity, probability of deviations from Hardy-Weinberg equilibrium, and inbreeding coefficient was calculated using GENEPOP 4.4. Genetic distance based on the proportion of common alleles (DPSA) was calculated using MICROSAT. Cluster analysis using the neighbor-joining method with 1,000 bootstraps was performed with PHYLIP to generate a dendrogram. The results of the AMOVA analysis showed that the total SSR diversity was 23% within and 77% between the three populations. A slight deviation from Hardy-Weinberg equilibrium was observed in the Mali Lošinj population. Allele richness ranged from 2.92 to 3.92, with the highest number of private alleles observed in the Mali Lošinj population (17). The average observed DPSA between 30 individuals was 0.557. The highest DPSA (0.875) was observed between several pairs of Dalmatian pyrethrum individuals from the Mali Lošinj and Mt. Biokovo populations, and the lowest between two individuals from the Čiovo population. Neighbor-joining trees, based on DPSA, grouped individuals into clusters according to their population affiliation. The separation of Mt. Biokovo clade was supported (bootstrap value 58%), which is consistent with the previous study on AFLP markers, where isolated populations from Mt. Biokovo differed from the rest of the populations. The developed SSR markers are an effective tool for assessing the genetic diversity and structure of natural Dalmatian pyrethrum populations. These preliminary results are encouraging for a future comprehensive study with a larger sample size across the species' range. Combined with the biochemical data, these highly informative markers could help identify potential genotypes of interest for future development of breeding lines and cultivars that are both resistant to environmental stress and high in pyrethrins. Acknowledgment: This work has been supported by the Croatian Science Foundation under the project ‘Genetic background of Dalmatian pyrethrum (Tanacetum cinerariifolium /Trevir./ Sch. Bip.) insecticidal potential’- (PyrDiv) (IP-06-2016-9034) and by project KK.01.1.1.01.0005, Biodiversity and Molecular Plant Breeding, at the Centre of Excellence for Biodiversity and Molecular Plant Breeding (CoE CroP-BioDiv), Zagreb, Croatia.

Keywords: Asteraceae, genetic diversity, genomic SSRs, NGS, pyrethrum, Tanacetum cinerariifolium

Procedia PDF Downloads 111

Authors: S. Rostampour Yasouri, M. Ghane, M. Doudi

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Leptospirosis is one of the most significant infectious and zoonotic diseases along with global spreading. This disease is causative agent of economoic losses and human fatalities in various countries, including Northern provinces of Iran. The aim of this research is to identify and compare the rapid diagnostic techniques of pathogenic leptospiras, considering the multifacetedness of the disease from a clinical manifestation and premature death of patients. In the spring and summer of 2020-2022, 25 fecal samples were collected from suspected leptospirosis patients and 25 Fecal samples from mice residing in the rice fields and factories in Tonekabon city. Samples were prepared by centrifugation and passing through membrane filters. Culture technique was used in liquid and solid EMJH media during one month of incubation at 30°C. Then, the media were examined microscopically. DNA extraction was conducted by extraction Kit. Diagnosis of leptospiras was enforced by PCR and Real time PCR (SYBR Green) techniques using lipL32 specific primer. Out of the patients, 11 samples (44%) and 8 samples (32%) were determined to be pathogenic Leptospira by Real time PCR and PCR technique, respectively. Out of the mice, 9 Samples (36%) and 3 samples (12%) were determined to be pathogenic Leptospira by the mentioned techniques, respectively. Although the culture technique is considered to be the gold standard technique, but due to the slow growth of pathogenic Leptospira and lack of colony formation of some species, it is not a fast technique. Real time PCR allowed rapid diagnosis with much higher accuracy compared to PCR because PCR could not completely identify samples with lower microbial load.

Keywords: culture, pathogenic leptospiras, PCR, real time PCR

Procedia PDF Downloads 78

Authors: Rim Frikha, Nouha Bouayed, Afifa Sellami, Nozha Chakroun, Salima Daoud, Leila Keskes, Tarek Rebai

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Introduction: Recurrent pregnancy loss (RPL) defined as two or more pregnancy losses, is a serious clinical problem. Methylene-tetrahydro-folate-reductase (MTHFR) polymorphisms, commonly the variant C677T is recognized as an inherited thrombophilia which might affect embryonic development and pregnancy success and cause pregnancy complications as RPL. Material and Methods DNA was extracted from peripheral blood samples and PCR-RFLP was performed for the molecular diagnosis of the C677T MTHFR polymorphism among 70 patients (35 couples) with more than 2 fetal losses. Aims and Objective: The aim of this study is to determine the frequency of MTHFR C677T among Tunisian couples with RPL and to critically analyze the available literature on the importance of MTHFR polymorphism testing in the management of RPL. Result and comments: No C677T mutation was detected in the carriers of RPL. This result would be related to sample size and to different criteria (number of abortion), - The association between MTHFR polymorphisms and pregnancy complications has been reported but with controversial results. - A lack of evidence for MTHFR polymorphism testing previously recommended by ACMG (American College of Medical medicine). Our study highlights the importance of screening of MTHFR polymorphism since the real impact of such thrombotic molecular defect on the pregnancy outcome is evident. - Folic supplementation of these patients during pregnancy can prevent such complications and lead to a successful pregnancy outcome.

Keywords: methylenetetrahydrofolate reductase, C677T, recurrent pregnancy loss, genetic testing

Procedia PDF Downloads 302