Search results for: mutation screening

Authors: R. Gounina-Allouane, I. Moussaoui, N. Boukahel

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Bacillus antimicrobial metabolites, especially those of Bacillus thuringiensis (Bt), are of great interest for research because of health risks generated by the excessive use of chemical additives as well as the propagation of resistant microbial strains, caused by the massive treatment with antibiotics. The objective of this study was the selection of Bt strains producing antimicrobial peptides (bacteriocins), and the partial purification of the most powerful bacteriocins, then the determination of their spectra of antimicrobial action. A collection of twenty one Bt strains isolated from soil at Boumerdès (northern of Algeria) was used for screening strains having an antagonistic activity against phylogenetically closed bacteria. Spectra of antagonistic activity of two selected strains was determined against other Bt strains, Gram positive and Gram negative bacterial strains of clinical origin and others from ATCC collection as well as yeasts isolated in human dermatology. Bacteriocins of these two strains were partially purified and their effect on the kinetics of growth of the most sensitive microbial strains was studied. The bacteriocinogenic strains were biochemically characterized and their sensitivity to antibiotics was studied.

Keywords: antimicrobial peptides, Bacillus thuringiensis, bacteriocin, partial purification

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Authors: Abuelquasim. M. Hassan, Namarig .S. Mohammed, Samah F. Mohammed, Wafaa. A. Mohammed, Wafaa M. Edriss, Amel A. Ahmed, Elfadil M. Abass

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Introduction: Cytomegalovirus (CMV), a common virus, usually causes asymptomatic infections in immunocompetent hosts; however, it may lead to serious complications especially in cancer patients. Objectives: This study was conducted to determine the seroprevalence of human cytomegalovirus (HCMV) among leukemia, breast and prostate cancer patients attending at Radiation Isotope-Center-Khartoum (RICK) from April to August 2016. Material and Methods: A total of 91 subjects were included: 30 leukemic, 22 breast cancer and 29 prostate cancer patients.10 of them were healthy and used as control group, serum samples were collected and tested for CMV IgG & IgM using enzyme-linked immune sorbent assay (ELISA). Result: Of the control group, 9/10 (9.9%) were seropositive for CMV IgG and 1/10 (1.09%) were sero positive for IgM. Also, all cancer groups demonstrated presence of IgG antibody classes as: The percentage of positive results in prostate, breast cancer and leukemia were 35.8 %, 37.2%, and 35.3% respectively. Conclusion: There was no significant correlation between leukemia, breast, prostate and HCMV.

Keywords: cytomegalovirus, serodiagnostic, breast cancer, leukemia

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Authors: Amelia Tero-Vescan, Camil-Eugen Vari, Laura Ciulea, Cristina Filip, Silvia Imre

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A HPLC –UV method for the identification of ephedrine (EPH), sibutramine (SB), yohimbine (Y) and caffeine (CF) was developed. Separation was performed on a Kromasil 100-RP8, 150 mm x 4.6 mm, 5 mm column equipped with a precolumn Kromasil RP 8. Mobile phase was a gradient of 80-35 % sodium dihydrogen phosphate pH=5 with NH4OH and acetonitrile over 15 minutes time of analysis. Based on the responses of 113 athletes about dietary supplements (DS) consumed for "fat burning" and weight loss which have a legal status in Romania, 28 supplements have been selected and investigated for their content in CF, Y, legal substances, and SB, EPH (prohibited substances in DS). The method allows quantitative determination of the four substances in a short analysis time and with minimum cost. The presence of SB and EPH in the analyzed DS was not detected while the content in CF and Y considering the dosage recommended by the manufacturer does not affect the health of the consumers. DS labeling (plant extracts with CF and Y content) allows manufacturers to avoid declaring correct and exact amounts per pharmaceutical form (pure CF or equivalent and Y, respectively).

Keywords: dietary supplements, sibutramine, ephedrine, yohimbine, caffeine, HPLC

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Authors: Hosseini Siahi Zohreh, Sana Mohammad Jafar

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With increase in fat and over weight in children and its undesirable effects on different organisms of the body and since many of the sicknesses are due to over weight and with losing weight these sicknesses disappear, and on the other hand with mal nutrition and under weight in children other kind of sicknesses such as derogation of body's security system, frequent infection, insufficient growth, shortness, and delay in maturity etc. are some of the signs of being under weight. Therefore recognition of signs of over weight and under weight and their prevalence in children are important. To determine this difficulty we have used the body mass index as screening tool since it is very prevalent and a good and important guide and has very good relation with body fat in children. In this study 2321 students from primary schools in Behbahan have been chosen randomly and evaluated by height and weight and their body mass index have been calculated and then recorded on the BMI percentile diagram which is for age and gender. The following results obtained: The amount of total fat, over weight and slimness are 9.3, 12.1 and 12.32 percent respectively. Therefore 21.4% of the children were over weighted. It did not show any meaningful statistical relation in fat conditions among boys and girls, but there has been a meaningful statistical relation in slimness among boys and girls.

Keywords: assessment, students, Behbahan, Body Mass Index

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Authors: Anoop T. R., Otman Basir, Robert F. Hess, Ben Thompson

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Strabismus refers to a misalignment of the eyes. Early detection and treatment of strabismus in childhood can prevent the development of permanent vision loss due to abnormal development of visual brain areas. Currently, many children with strabismus remain undiagnosed until school entry because current automated screening methods have limited success in the preschool age range. A method for strabismus detection using eye alignment stability (EAS) is proposed. This method starts with face detection, followed by facial landmark detection, eye region segmentation, eye gaze extraction, and eye alignment stability estimation. Binarization and morphological operations are performed for segmenting the pupil region from the eye. After finding the EAS, its absolute value is used to differentiate the strabismic eye from the non-strabismic eye. If the value of the eye alignment stability is greater than a particular threshold, then the eyes are misaligned, and if its value is less than the threshold, the eyes are aligned. The method was tested on 175 strabismic and non-strabismic images obtained from Kaggle and Google Photos. The strabismic eye is taken as a positive class, and the non-strabismic eye is taken as a negative class. The test produced a true positive rate of 100% and a false positive rate of 7.69%.

Keywords: strabismus, face detection, facial landmarks, eye segmentation, eye gaze, binarization

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Authors: Hosseini Siahi Zohreh, Sana Mohammad Jafar

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The prevalence of overweight and obesity in children and adolescents has increased in recent decades in different countries. Childhood obesity, increases the risk of adult obesity and its related diseases. Determine the prevalence of the problem in different populations results to screening and adequate intervention and the effects of early and late complications. Various studies have shown Parents and family environment has a significant impact on the incidence of overweight and obesity in children. As parental obesity is directly related to child obesity. In this study were selected randomly 60 girl students with a BMI above the 95th percentile (as fat) and BMI greater than 85 and less than 95 (overweight). So 60 were selected randomly of girl students with a BMI of between 5 and 85 (normal). In the case of boys was done exactly the same. Case and control groups were matched according to age and grade for statistical analysis of SPPS software version 17. According to results the prevalence of overweight and obesity in girl students respectively is 8.7 percent and 13.76 percent and in boy students 9.9 percent and 10.42 percent. Also was not found in boys group the relationship significant between obesity and overweight with parents BMI. Whereas in girls group was found a significant relationship.

Keywords: parents BMI, overweight, obesity, primary school students

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Authors: Rahma Adinda Sartika

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The use of technology in learning mathematics has received a positive response from both students and teachers, so many researchers have conducted research on this theme. Based on the findings carried out in this study, 807 documents relevant to this theme have been published in Scopus from 1995-2024. After going through the stages of identification, screening, eligibility, and including, the documents that meet the criteria are 227 documents. These documents are then analyzed using the bibliometric method so that it can be seen that the most published documents in the Scopus database occurred in 2020, with 38 documents, and the lowest was from 1996 to 2000 and 2004 to 2007, namely, no documents published. The highest number of citations is in documents published in 2018, with a total of 349 citations, so the h-index is higher than the others. The country that published the most documents relevant to this theme is Indonesia with a total of 91 documents. The second largest is the United States, with a total of 28 published documents, and the third largest is China, with a total of 15 documents. Indonesia and the United States have the most working relationships between countries compared to other countries. The focus of research related to this theme is 1) mathematics learning, 2) learning systems, 3) engineering education, 4) technology and 5) mathematical concepts.

Keywords: technology, bibliometric, mathematics learning, mathematical concepts

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Authors: Kemal Polat

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In this paper, three feature weighting methods have been used to improve the classification performance of diabetic retinopathy (DR). To classify the diabetic retinopathy, features extracted from the output of several retinal image processing algorithms, such as image-level, lesion-specific and anatomical components, have been used and fed them into the classifier algorithms. The dataset used in this study has been taken from University of California, Irvine (UCI) machine learning repository. Feature weighting methods including the fuzzy c-means clustering based feature weighting, subtractive clustering based feature weighting, and Gaussian mixture clustering based feature weighting, have been used and compered with each other in the classification of DR. After feature weighting, five different classifier algorithms comprising multi-layer perceptron (MLP), k- nearest neighbor (k-NN), decision tree, support vector machine (SVM), and Naïve Bayes have been used. The hybrid method based on combination of subtractive clustering based feature weighting and decision tree classifier has been obtained the classification accuracy of 100% in the screening of DR. These results have demonstrated that the proposed hybrid scheme is very promising in the medical data set classification.

Keywords: machine learning, data weighting, classification, data mining

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Authors: Ines Zemni, Maher Slimane, Jamel Ben Hassouna, Khaled Rahal

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Background: Neurofibromatosis type 1 (NF1) is a genetic disease, which is associated with an increased risk of developing different malignancies including breast cancer. The association between NF1 band breast sarcoma is a rare entity. Herein we present a 25-year-old woman with NF1 who had fibrosarcoma of the left breast. Case presentation: The patient has multiple thoraco-abdominal 'café au lait' spots. Clinical examination showed a lump of the left breast measuring 9 cm of diameter, which was noticed for 6 months. There was a left inguinal mass of 6 cm of diameter. The patient underwent first a left lumpectomy. Histopathological exam revealed a high-grade fibrosarcoma of the left breast measuring 7.5 cm. Three months later, the patient underwent a left mastectomy and excision of the inguinal mass, which was a neurofibroma. An adjuvant chemotherapy and radiation therapy were indicated, but not applied because of the timeout. The patient is now alive after a follow up of 6 years, with no loco-regional recurrence or metastasis. Conclusion: The relationship between NF1 and breast cancer need to be more clarified by further studies. Establishing a specific screening program of these patients may help to make an earlier diagnosis of breast cancer.

Keywords: neurofibromatosis, breast, sarcoma, cancer

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Authors: Maciej Sobczak, Julita Pietrzak, Tomasz Płoszaj, Agnieszka Robaszkiewicz

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Brg1, a member of SWI/SNF complex, plays a role in chromatin remodeling, therefore, regulates expression of many genes. Brg1 is an ATPase of SWI/SNF complex, thus its activity requires ATP. Through its bromodomain recognizes acetylated histone residues and evicts them, thus promoting transcriptionally active state of chromatin. One of the enzymes that is responsible for acetylation of histone residues is Ep300. It was previously shown in the literature that cooperation of Brg1 and Ep300 occurs at the promoter regions that have binding sites for E2F-family transcription factors as well as CpG islands. According to literature, approximately 20% of human cancer possess mutation in Brg1 or any other crucial SWI/SNF subunit. That phenomenon makes Brg1-Ep300 a very promising target for anti-cancer therapy. Therefore in our study, we investigated if physical interaction between Brg1 and Ep300 exists and what impact those two proteins have on key for breast cancer cells processes such as DNA damage repair and cell proliferation. Bioinformatical analysis pointed out, that genes involved in cell proliferation and DNA damage repair are overexpressed in MCF7 and MDA-MB-231 cells. Moreover, promoter regions of these genes are highly acetylated, which suggests high transcriptional activity of those sites. Notably, many of those gene possess within their promoters an E2F, Brg1 motives, as well as CpG islands and acetylated histones. Our data show that Brg1 physically interacts with Ep300, and together they regulate expression of genes involved in DNA damage repair and cell proliferation. Upon inhibiting Brg1 or Ep300, expression of vital for cancer cell survival genes such as CDK2/4, BRCA1/2, PCNA, and XRCC1 is decreased in MDA-MB-231 and MCF7 cells. Moreover, inhibition or silencing of either Brg1 or Ep300 leads to cell cycle arrest in G1. After inhibition of BRG1 or Ep300 on tested gene promoters, the repressor complex including Rb, HDAC1, and EZH2 is formed, which inhibits gene expression. These results highlight potentially significant target for targeted anticancer therapy to be introduced as a supportive therapy.

Keywords: brg1, ep300, breast cancer, epigenetics

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Authors: Lydia Foucan, Laurent Larifla, Emmanuelle Durand, Christine Rambhojan, Veronique Dhennin, Jean-Marc Lacorte, Philippe Froguel, Amelie Bonnefond

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In the population of Guadeloupe Island (472,124 inhabitants and 80% of subjects of African descent), overweight and obesity were estimated at 23% and 9% respectively among children. High prevalence of diabetes has been reported (~10%) in the adult population. Nevertheless, no study has investigated the contribution of gene mutations to childhood obesity in this population. We aimed to investigate rare genetic mutations in genes involved in monogenic obesity or diabetes in obese Afro-Caribbean children from Guadeloupe Island using next-generation sequencing. The present investigation included unrelated obese children, from a previous study on overweight conducted in Guadeloupe Island in 2013. We sequenced coding regions of 59 genes involved in monogenic obesity or diabetes. A total of 25 obese schoolchildren (with Z-score of body mass index [BMI]: 2.0 to 2.8) were screened for rare mutations (non-synonymous, splice-site, or insertion/deletion) in 59 genes. Mean age of the study population was 12.4 ± 1.1 years. Seventeen children (68%) had insulin-resistance (HOMA-IR > 3.16). A family history of obesity (mother or father) was observed in eight children and three of the accompanying parent presented with type 2 diabetes. None of the children had gonadotrophic abnormality or mental retardation. We detected five rare heterozygous mutations, in four genes involved in monogenic obesity, in five different obese children: MC4R p.Ile301Thr and SIM1 p.Val326Thrfs*43 mutations which were pathogenic; SIM1 p.Ser343Pro and SH2B1 p.Pro90His mutations which were likely pathogenic; and NTRK2 p.Leu140Phe that was of uncertain significance. In parallel, we identified seven carriers of mutation in ABCC8 or KCNJ11 (involved in monogenic diabetes), which were of uncertain significance (KCNJ11 p.Val13Met, KCNJ11 p.Val151Met, ABCC8 p.Lys1521Asn and ABCC8 p.Ala625Val). Rare pathogenic or likely pathogenic mutations, linked to severe obesity were detected in more than 15% of this Afro-Caribbean population at high risk of obesity and type 2 diabetes.

Keywords: childhood obesity, MC4R, monogenic obesity, SIM1

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Authors: Ian Campbell, Gillian Mitchell, Paul James, Na Li, Ella Thompson

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The genetic cause of the majority of multiple-case breast cancer families remains unresolved. Next generation sequencing has emerged as an efficient strategy for identifying predisposing mutations in individuals with inherited cancer. We are conducting whole exome sequence analysis of germ line DNA from multiple affected relatives from breast cancer families, with the aim of identifying rare protein truncating and non-synonymous variants that are likely to include novel cancer predisposing mutations. Data from more than 200 exomes show that on average each individual carries 30-50 protein truncating mutations and 300-400 rare non-synonymous variants. Heterogeneity among our exome data strongly suggest that numerous moderate penetrance genes remain to be discovered, with each gene individually accounting for only a small fraction of families (~0.5%). This scenario marks validation of candidate breast cancer predisposing genes in large case-control studies as the rate-limiting step in resolving the missing heritability of breast cancer. The aim of this study is to screen genes that are recurrently mutated among our exome data in a larger cohort of cases and controls to assess the prevalence of inactivating mutations that may be associated with breast cancer risk. We are using the Agilent HaloPlex Target Enrichment System to screen the coding regions of 168 genes in 1,000 BRCA1/2 mutation-negative familial breast cancer cases and 1,000 cancer-naive controls. To date, our interim analysis has identified 21 genes which carry an excess of truncating mutations in multiple breast cancer families versus controls. Established breast cancer susceptibility gene PALB2 is the most frequently mutated gene (13/998 cases versus 0/1009 controls), but other interesting candidates include NPSR1, GSN, POLD2, and TOX3. These and other genes are being validated in a second cohort of 1,000 cases and controls. Our experience demonstrates that beyond PALB2, the prevalence of mutations in the remaining breast cancer predisposition genes is likely to be very low making definitive validation exceptionally challenging.

Keywords: predisposition, familial, exome sequencing, breast cancer

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Authors: Lukasz Szydlowski, Jiri Ehlich, Igor Goryanin

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We demonstrate a single chamber, 96-well-plated based Microbial Fuel Cell (MFC) with printed, electronic components. This invention is aimed at robust selection of electrogenic microbial community under specific conditions, e.g., electrode potential, pH, nutrient concentration, salt concentration that can be altered within the 96 well plate array. This invention enables robust selection of electrogenic microbial community under the homogeneous reactor, with multiple conditions that can be altered to allow comparative analysis. It can be used as a standalone technique or in conjunction with other selective processes, e.g., flow cytometry, microfluidic-based dielectrophoretic trapping. Mobile conductive elements, like carbon paper, carbon sponge, activated charcoal granules, metal mesh, can be inserted inside to increase the anode surface area in order to collect electrogenic microorganisms and to transfer them into new reactors or for other analytical works. An array of 96-well plate allows this device to be operated by automated pipetting stations.

Keywords: bioengineering, electrochemistry, electromicrobiology, microbial fuel cell

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Authors: Mark Bezner, Shani Deri, Tom Trigano, Kfir Ben-Harush

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Intermediate filament (IF) proteins-based fibers are among the toughest fibers in nature, as was shown by native hagfish slime threads and by synthetic fibers that are based on type V IF-proteins, the nuclear lamins. It is assumed that their mechanical performance stems from two major factors: (1) the transition from elastic -helices to stiff-sheets during tensile load; and (2) the specific organization of the coiled-coil proteins into a hierarchical network of nano-filaments. Here, we investigated the interrelationship between these two factors by using wet-spun fibers based on C. elegans (Ce) lamin. We found that Ce-lamin fibers, whether assembled in aqueous or alcoholic solutions, had the same nonlinear mechanical behavior, with the elastic region ending at ~5%. The pattern of the transition was, however, different: the ratio between -helices and -sheets/random coils was relatively constant until a 20% strain for fibers assembled in an aqueous solution, whereas for fibers assembled in 70% ethanol, the transition ended at a 6% strain. This structural phenomenon in alcoholic solution probably occurred through the transition between compacted and extended conformation of the random coil, and not between -helix and -sheets, as cycle analyses had suggested. The different transition pattern can also be explained by the different higher order organization of Ce-lamins in aqueous or alcoholic solutions, as demonstrated by introducing a point mutation in conserved residue in Ce-lamin gene that alter the structure of the Ce-lamins’ nano-fibrils. In addition, biomimicking the layered structure of silk and hair fibers by coating the Ce-lamin fiber with a hydrophobic layer enhanced fiber toughness and lead to a reversible transition between -helix and the extended conformation. This work suggests that different hierarchical structures, which are formed by specific assembly conditions, lead to diverse secondary structure transitions patterns, which in turn affect the fibers’ mechanical properties.

Keywords: protein-based fibers, intermediate filaments (IF) assembly, toughness, structure-property relationships

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Authors: Raham El-Kahlout, Hadi Yassin, Asmaa Athani, Marwan Abou Madi, Gheyath Nasrallah

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Background: Since its first isolation in September 2012, Middle East respiratory syndrome coronavirus (MERS-CoV) has diffused across 27 countries infecting more than two thousand individuals with a high case fatality rate. MERS-CoV–specific antibodies are widely found in Dromedary camel along with viral shedding of similar viruses detected in human at same region, suggesting that MERS epidemiology may be central role by camel. Interestingly, MERS-CoV has also been also reported to be asymptomatic or to cause influenza-like mild illnesses. Therefore, in a country like Qatar (bordered Saudi Arabia), where camels are widely spread, serological surveys are important to explore the role of camels in MERS-CoV transmission. However, widespread strategic serological surveillances of MERS-CoV among populations, particularly in endemic country, are infrequent. In the absence of clear epidemiological view, cross-sectional MERS antibody surveillances in human populations are of global concern. Method: We performed a comparative serological screening of 4719 healthy blood donors, 135 baseline case contacts (high risk individual), and four MERS confirmed patients (by PCR) for the presence of anti-MERS IgG. Initially, samples were screened using Euroimmune anti- MERS-CoV IgG ELISA kit, the only commercial kit available in the market and recommended by the CDC as a screening kit. To confirm ELISA test results, farther serological testing was performed for all borderline and positive samples using two assays; the anti MERS-CoV IgG and IgM Euroimmune indirect immunofluorescent test (IIFT) and pseudoviral particle neutralizing assay (PPNA). Additionally, to test cross reactivity of anti-MERS-CoV antibody with other family members of coronavirus, borderline and positive samples were tested for the presence of the of IgG antibody of the following viruses; SARS, HCoV-229E, HKU1 using the Euroimmune IIFT for SARS and HCoV-229E and ELISA for HKU1. Results: In all of 4858 screened 15 samples [10 donors (0.21%, 10/4719), 1 case contact (0.77 %, 1/130), 3 patients (75%, 3/4)] anti-MERS IgG reactive/borderline samples were seen in ELISA. However, only 7 (0.14%) of them gave positive with in IIFT and only 3 (0.06%) was confirmed by the specific anti-MERS PPNA. One of the interesting findings was, a donor, who was selected in the control group as a negative anti-MERS IgG ELISA, yield reactive for anti-MERS IgM IIFT and was confirmed with the PPNA. Further, our preliminary results showed that there was a strong cross reactivity between anti- MERS-COV IgG with both HCoV-229E or anti-HKU1 IgG, yet, no cross reactivity of SARS were found. Conclusions: Our findings suggest that MERS-CoV is not heavily circulated among the population of Qatar and this is also indicated by low number of confirmed cases (only 18) since 2012. Additionally, the presence of antibody of other pathogenic human coronavirus may cause false positive results of both ELISA and IIFT, which stress the need for more evaluation studies for the available serological assays. Conclusion: this study provides an insight about the epidemiological view for MERS-CoV in Qatar population. It also provides a performance evaluation for the available serologic tests for MERS-CoV in a view of serologic status to other human coronaviruses.

Keywords: seroprevalence, MERS-CoV, healthy individuals, Qatar

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Authors: Dar-Bin Shieh, Gwo-Bin Lee, Chen-Ming Chang, Chen Sheng Yeh, Chih-Chia Huang, Tsung-Ju Li

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Mitochondrial defects have a significant impact in many human diseases and aging associated phenotypes. The pathogenic mitochondrial DNA (mtDNA) mutations are diverse and usually present as heteroplasmic. mtDNA 4977bps deletion is one of the common mtDNA defects, and the ratio of mutated versus normal copy is significantly associated with clinical symptoms thus their quantitative detection has become an important unmet needs for advanced disease diagnosis and therapeutic guidelines. This study revealed a Micro-electro-mechanical-system (MEMS) enabled automatic microfluidic chip that only required minimal sample. The system integrated multiple laboratory operation steps into a Lab-on-a-Chip for high-sensitive and prompt measurement. The entire process including magnetic nanoparticle based mtDNA extraction in chip, mutation selective photonic DNA cleavage, and nanoparticle accelerated photonic quantitative polymerase chain reaction (qPCR). All subsystems were packed inside a miniature three-dimensional micro structured system and operated in an automatic manner. Integration of magnetic beads with microfluidic transportation could promptly extract and enrich the specific mtDNA. The near infrared responsive magnetic nanoparticles enabled micro-PCR to be operated by pulse-width-modulation controlled laser pulsing to amplify the desired mtDNA while quantified by fluorescence intensity captured by a complementary metal oxide system array detector. The proportions of pathogenic mtDNA in total DNA were thus obtained. Micro capillary electrophoresis module was used to analyze the amplicone products. In conclusion, this study demonstrated a new magnetophotonic based qPCR MEMS system that successfully detects and quantify specific disease related DNA mutations thus provides a promising future for rapid diagnosis of mitochondria diseases.

Keywords: mitochondrial DNA, micro-electro-mechanical-system, magnetophotonics, PCR

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Authors: B. Navidshad

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The main objective of this study was to examine the effects of enzymatic treatment and shell content of palm kernel expeller (PKE) on the ileal Lactobacilli and Escherichia coli populations in broiler chickens. At the finisher phase, one hundred male broiler chickens (Cobb-500) were fed a control diet or the diets containing 200 g/kg of normal PKE (70 g/kg shell), low shell PKE (30 g/kg shell), enzymatic treated PKE or low shell-enzymatic treated PKE. The quantitative real-time PCR were used to determine the ileal bacteria populations. The lowest ileal Lactobacilli population was found in the chickens fed the low shell PKE diet. Dietary normal PKE or low shell-enzymatic treated PKE decreased the Escherichia coli population compared to the control diet. The results suggested that PKE could be included up to 200 g/kg in the finisher diet, however, any screening practice to reduce the shell content of PKE without enzymatic degradation of β-mannan, decrease ileal Lactobacilli population.

Keywords: palm kernel expeller, exogenous enzyme, shell content, ileum bacteria, broiler chickens

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Authors: Nadia Naseem, Farwa Batool, Nasir Mehmood, AbdulHannan Nagi

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Background: The incidence and mortality of breast cancer vary significantly in geographically distinct populations. In Pakistan, breast cancer has shown an increase in incidence in young females and is characterized by more aggressive behavior. The tumor suppressor TP53 gene is a crucial genetic factor that plays a significant role in breast carcinogenesis. This study investigated the TP53 mutations in molecular subtypes of both nodes negative and positive breast cancer in young Pakistani patients. Material and Methods: p53, Estrogen Receptor (ER), Progesterone Receptor (PR), Her-2 neu and Ki 67 expressions were analyzed immunohistochemically in a series of 75 node negative (A) and 75 node positive (B) young (aged: 19-40 years) breast cancer patients diagnosed between 2014 to 2017 at two leading hospitals of Punjab, Pakistan. Tumor tissue specimens and peripheral blood samples were examined for TP53 mutations by direct sequencing of the gene (exons 4-9). The relation of TP53 mutations to these markers and clinicopathological data was investigated. Results: Mean age of the patients was 32.4 + 9.1 SD. Invasive breast carcinoma was the most frequent histological variant (A=92%, B=94.6%). Grade 3 carcinoma was the commonest grade (A=72%, B=81.3%). Triple negative cases (ER-, PR-, Her-2) formed most of the molecular subtypes (A=44%, B=50.6%). A total of 17.2% (A: 6.6%, B: 10.6%) patients showed TP53 mutations. Mutations were significantly more frequent in triple negative cases (A: 74.8%, B: 62.2%) compared to HER2-positive patients (P < 0.0001). In the multivariate analysis of the whole patient group, the independent prognosticator were triple negative cases (P=0.021), TP53 overexpression by IHC (P=0.001) and advanced-stage disease (P=0.007). No statistically significant correlation between TP53 mutations and clinicopathological parameters was found (P < 0.05). Conclusions: It is concluded that TP53 mutations are infrequently present in breast carcinoma of young Pakistani population and there was no significant correlation between p53 mutation and early onset disease. Immunohistochemically detected TP53 expression in our resource-constrained to set up can be beneficial in predicting mutations at the younger age in our population.

Keywords: immunohistochemistry (IHC), invasive breast carcinoma (IBC), Pakistan, TP53

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Authors: Paul Licina, Emma M. Johnston, David Lisle, Mark Young, Chris Brady

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Background: Lumbar pars pathology is a common cause of pain in the growing spine. It can be seen in young athletes participating in at-risk sports and can affect sporting performance and long-term health due to its resistance to traditional management. There is a current lack of consensus of classification and treatment for pars injuries. Previous systems used CT to stage pars defects but could not assess early stress reactions. A modified classification is proposed that considers findings on MRI, significantly improving early treatment guidance. The treatment protocol is designed for patients aged 5 to 19 years. Method: Clinical screening identifies patients with a low, medium, or high index of suspicion for lumbar pars injury using patient age, sport participation and pain characteristics. MRI of the at-risk cohort enables augmentation of existing CT-based classification while avoiding ionising radiation. Patients are classified into five categories based on MRI findings. A type 0 lesion (stress reaction) is present when CT is normal and MRI shows high signal change (HSC) in the pars/pedicle on T2 images. A type 1 lesion represents the ‘early defect’ CT classification. The group previously referred to as a 'progressive stage' defect on CT can be split into 2A and 2B categories. 2As have HSC on MRI, whereas 2Bs do not. This distinction is important with regard to healing potential. Type 3 lesions are terminal stage defects on CT, characterised by pseudarthrosis. MRI shows no HSC. Results: Stress reactions (type 0) and acute fractures (1 and 2a) can heal and are treated in a custom-made hard brace for 12 weeks. It is initially worn 23 hours per day. At three weeks, patients commence basic core rehabilitation. At six weeks, in the absence of pain, the brace is removed for sleeping. Exercises are progressed to positions of daily living. Patients with continued pain remain braced 23 hours per day without exercise progression until becoming symptom-free. At nine weeks, patients commence supervised exercises out of the brace for 30 minutes each day. This allows them to re-learn muscular control without rigid support of the brace. At 12 weeks, bracing ceases and MRI is repeated. For patients with near or complete resolution of bony oedema and healing of any cortical defect, rehabilitation is focused on strength and conditioning and sport-specific exercise for the full return to activity. The length of this final stage is approximately nine weeks but depends on factors such as development and level of sports participation. If significant HSC remains on MRI, CT scan is considered to definitively assess cortical defect healing. For these patients, return to high-risk sports is delayed for up to three months. Chronic defects (2b and 3) cannot heal and are not braced, and rehabilitation follows traditional protocols. Conclusion: Appropriate clinical screening and imaging with MRI can identify pars pathology early. In those with potential for healing, we propose hard bracing and appropriate rehabilitation as part of a multidisciplinary management protocol. The validity of this protocol will be tested in future studies.

Keywords: adolescents, MRI classification, pars interticularis, treatment protocol

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Authors: Swarkar Sharma, Ekta Rai, Ankit Mahajan, Parvinder Kumar, Manoj K Dhar, Sushil Razdan, Kumarasamy Thangaraj, Carol Wise, Shiro Ikegawa M.D., K.K. Pandita M.D.

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Rare disorders are poorly understood hence, remain uncharacterized or patients are misdiagnosed and get poor medical attention. A rare mysterious skeletal disorder that remained unidentified for decades and rendered many people physically challenged and disabled for life has been reported in an isolated remote village ‘Arai’ of Poonch district of Jammu and Kashmir. This village is located deep in mountains and the population residing in the region is highly consanguineous. In our survey of the region, 70 affected people were reported, showing similar phenotype, in the village with a population of approximately 5000 individuals. We were able to collect samples from two multi generational extended families from the village. Through Whole Exome sequencing (WES), we identified a rare variation NM_003880.3:c.156C>A NP_003871.1:p.Cys52Ter, which results in introduction of premature stop codon in WISP3 gene. We found this variation perfectly segregating with the disease in one of the family. However, this variation was absent in other family. Interestingly, a novel splice site mutation at position c.643+1G>A of WISP3 gene, perfectly segregating with the disease was observed in the second family. Thus, exploiting WES and putting different evidences together (familial histories and genetic data, clinical features, radiological and biochemical tests and findings), the disease has finally been diagnosed as a very rare recessive hereditary skeletal disease “Progressive Pseudorheumatoid Arthropathy of Childhood” (PPAC) also known as “Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy” (SEDT-PA). This genetic characterization and identification of the disease causing mutations will aid in genetic counseling, critically required to curb this rare disorder and to prevent its appearance in future generations in the population. Further, understanding of the role of WISP3 gene the biological pathways should help in developing treatment for the disorder.

Keywords: whole exome sequencing, Next Generation Sequencing, rare disorders

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Authors: Christine Myunghee Ahn, Sung Eun Baek, Sun Young Park

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The purpose of this study was to evaluate the cross-cultural validity of the Korean version of the Behavioral Assessment System for Children 2nd Edition, Parent Rating Scales - Adolescent Form (K BASC-2, PRS-A). The 150-item K BASC-2, PRS-A questionnaire was administered to a total of 690 Korean parents or caregivers (N=690) of adolescent children in middle school and high school. Results from the confirmatory and exploratory factor analyses indicate that the K BASC-2, PRS-A yielded a 3-factor solution similar to the factor structure found in the original version of the BASC-2. The internal consistencies using the Cronbach’s alpha of the composite scale scores were in the .92~ .98 range. The overall reliability and validity of the K BASC-2, PRS-A seem adequate. Structural equation modeling was used to verify the theoretical relationship among the scales of Adaptability, Withdrawal, Somatization, Depression, and Anxiety, to render additional support for internal validity. Other relevant findings, practical implications regarding the use of the KBASC-2, PRS-A and suggestions for future research are discussed.

Keywords: behavioral assessment system, cross-cultural validity, parent report, screening

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Authors: Nadia Masood Khan, Muhammad Salman Khan, Gul Muhammad Khan

Abstract:

Cardiologists perform cardiac auscultation to detect abnormalities in heart sounds. Since accurate auscultation is a crucial first step in screening patients with heart diseases, there is a need to develop computer-aided detection/diagnosis (CAD) systems to assist cardiologists in interpreting heart sounds and provide second opinions. In this paper different algorithms are implemented for automated heart sound classification using unsegmented phonocardiogram (PCG) signals. Support vector machine (SVM), artificial neural network (ANN) and cartesian genetic programming evolved artificial neural network (CGPANN) without the application of any segmentation algorithm has been explored in this study. The signals are first pre-processed to remove any unwanted frequencies. Both time and frequency domain features are then extracted for training the different models. The different algorithms are tested in multiple scenarios and their strengths and weaknesses are discussed. Results indicate that SVM outperforms the rest with an accuracy of 73.64%.

Keywords: pattern recognition, machine learning, computer aided diagnosis, heart sound classification, and feature extraction

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Authors: Chaluntorn Vichasilp, Sutee Wangtueai

Abstract:

This study aims to develop a new method to detect active compounds in Thai herbs (1-deoxynojirimycin (DNJ) in mulberry leave, anthocyanin in Mao and curcumin in turmeric) using near infrared spectroscopy (NIRs). NIRs is non-destructive technique that rapid, non-chemical involved and low-cost determination. By NIRs and chemometrics technique, it was found that the DNJ prediction equation conducted with partial least square regression with cross-validation had low accuracy R2 (0.42) and SEP (31.87 mg/100g). On the other hand, the anthocyanin prediction equation showed moderate good results (R2 and SEP of 0.78 and 0.51 mg/g) with Multiplication scattering correction at wavelength of 2000-2200 nm. The high absorption could be observed at wavelength of 2047 nm and this model could be used as screening level. For curcumin prediction, the good result was obtained when applied original spectra with smoothing technique. The wavelength of 1400-2500 nm was created regression model with R2 (0.68) and SEP (0.17 mg/g). This model had high NIRs absorption at a wavelength of 1476, 1665, 1986 and 2395 nm, respectively. NIRs showed prospective technique for detection of some active compounds in Thai herbs.

Keywords: anthocyanin, curcumin, 1-deoxynojirimycin (DNJ), near infrared spectroscopy (NIRs)

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Authors: Diya Kohli, Amalia Ardeljan, Lexi Frankel, Jose Garcia, Lokesh Manjani, Omar Rashid

Abstract:

Gonorrhea is the second most common sexually transmitted disease (STDs) in the United States of America. Gonorrhea affects the urethra, rectum, or throat and the cervix in females. Lymphoma is a cancer of the immune network called the lymphatic system that includes the lymph nodes/glands, spleen, thymus gland, and bone marrow. Lymphoma can affect many organs in the body. When a lymphocyte develops a genetic mutation, it signals other cells into rapid proliferation that causes many mutated lymphocytes. Multiple studies have explored the incidence of cancer in people infected with STDs such as Gonorrhea. For instance, the studies conducted by Wang Y-C and Co., as well as Caini, S and Co. established a direct co-relationship between Gonorrhea infection and incidence of prostate cancer. We hypothesize that Gonorrhea infection also increases the incidence of Lymphoma in patients. This research study aimed to evaluate the correlation between Gonorrhea infection and the incidence of Lymphoma. The data for the research was provided by a Health Insurance Portability and Accountability Act (HIPAA) compliant national database. This database was utilized to evaluate patients infected with Gonorrhea versus the ones who were not infected to establish a correlation with the prevalence of Lymphoma using ICD-10 and ICD-9 codes. Access to the database was granted by the Holy Cross Health, Fort Lauderdale for academic research. Standard statistical methods were applied throughout. Between January 2010 and December 2019, the query was analyzed and resulted in 254 and 808 patients in both the infected and control group, respectively. The two groups were matched by Age Range and CCI score. The incidence of Lymphoma was 0.998% (254 patients out of 25455) in the Gonorrhea group (patients infected with Gonorrhea that was Lymphoma Positive) compared to 3.174% and 808 patients in the control group (Patients negative for Gonorrhea but with Lymphoma). This was statistically significant by a p-value < 2.210-16 with an OR= 0.431 (95% CI 0.381-0.487). The patients were then matched by antibiotic treatment to avoid treatment bias. The incidence of Lymphoma was 1.215% (82 patients out of 6,748) in the Gonorrhea group compared to 2.949% (199 patients out of 6748) in the control group. This was statistically significant by a p-value <5.410-10 with an OR= 0.468 (95% CI 0.367-0.596). The study shows a statistically significant correlation between Gonorrhea and a reduced incidence of Lymphoma. Further evaluation is recommended to assess the potential of Gonorrhea in reducing Lymphoma.

Keywords: gonorrhea, lymphoma, STDs, cancer, ICD

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Authors: Hisham Mughrabi

Abstract:

Osteoporosis is one of the most common diseases in the world and, its seriousness lies in the lack of clear symptoms. The researcher aims to identify the impact of sports activities on osteoporosis and the body component of those with mild intellectual disabilities of students in the schools in Saudi Arabia -Medina. The research sample was selected in an intentional manner and consisted of 45 students and they were divided into two groups. The first group consisted of 23 individuals participate in sports and the second group consisted of 22 individuals does not participate in sports. The researcher used the descriptive method and collected the data by measuring osteoporosis using and ultrasound osteoporosis screening device (OSTEO PRO B.M. Tech) and measured the body composition by using a Tanita devise (Body Composition Analyzer TBF- 300 Tanita). The results indicated that there was a statistical significant difference between the two comparing groups in osteoporosis measurement and body composition for the benefit of the group of sport participants. The researcher recommended the need to involve individuals with mild intellectual disabilities in physical activities to improve their rate of osteoporosis and body composition as well as to develop sports programs for individuals with mild intellectual disabilities.

Keywords: body composition, mild intellectual disabilities, osteoporosis, physical activities

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Authors: Senay Karadag Arli, Ayse Berivan Bakan, Ela Varol, Gulpinar Aslan

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Objective: This study aims to investigate pain and life satisfaction in elderly individuals. Methods: This study, which is descriptive in nature, utilized relational screening model. It was conducted between September 2016 and March 2017, with 387 people aged 65 and over who were registered in Family Health Centers in Ağrı, a city located in eastern Turkey. Results: The Geriatric Pain Measure mean score of the participants was 53.23 ± 29.40, indicating moderate pain. The Life Satisfaction Scale mean score was found 8.50 ± 5.34, indicating moderate life satisfaction level. The study also found a statistically significant, negative relationship between life satisfaction and geriatric pain. Conclusion: Increase in elderly population brings along various health problems. Results of this study show that the rate of chronic diseases is very high in elderly individuals. Therefore, pain is one of the most frequently encountered health problems, and it has negative effects on life satisfaction. In conclusion, it is considered that elderly people’s life satisfaction could increase if their pain is identified and reduced effectively.

Keywords: geriatric pain measure, life satisfaction, pain, Turkey

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Authors: Hamidreza Sharifan, Audra Morse

Abstract:

Accurate assessments of contaminant concentrations based on traditional grab sampling methods are not always possible. Passive samplers offer an attractive alternative to traditional sampling methods that overcomes these limitations. The POCIS approach has been used as a screening tool for determining the presence/absence, possible sources and relative amounts of organic compounds at field sites. The objective for the present research is on mass transfer of five water contaminants (atrazine, caffeine, bentazon, ibuprofen, atenolol) through the Water Boundary Layer (WBL) and membrane. More specific objectives followed by establishing a relationship between the sampling rate and water solubility of the compounds, as well as comparing the molecular weight of the compounds and concentration of the compounds at the time of equilibrium. To determine whether water boundary layer effects transport rate through the membrane is another main objective in this paper. After GC mass analysis of compounds, regarding the WBL effect in this experiment, Sherwood number for the experimental tank developed. A close relationship between feed concentration of compound and sampling rate has been observed.

Keywords: passive sampler, water contaminants, PES-transfer rate, contaminant concentrations

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Authors: Sarah Isabelle Torres

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Using Lefebvre’s (1991) Spatial Triad, this study explores the relationship of geography and cinema and asks the question: how does geography shape the film culture of a regional city center located at the periphery of a country’s capital? This research aims to locate the contemporary film scene of the city in question, Davao City, Mindanao through contextualizing the politics and culture of its tri-people. This study shows that primarily because of local filmmakers' affection and sense of place, progressive films focusing on the tri-people and their struggles mainly due to issues on land have been born. To further understand the city’s film culture, this study maps the following areas: 1) filmmakers and cineastes, 2) films, 3) film festivals, 4) financial stakeholders, 5) institutions, and 6) screening places. From these, the researcher learned that although the local film community has established itself for decades, problems on audience, funding, and institutional support continue to persist. Aside from mapping, this study also explores Davao’s political, economic, and cultural position within the regional and the national arenas.

Keywords: cinema studies, Davao City, film culture, geography, Philippines, place, regional cinema, space

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Authors: Mehrnaz Mostafavi, Mahtab Shabani, Alireza Azani, Fatemeh Ghafari

Abstract:

Artificial intelligence (AI) can transform breast cancer diagnosis and therapy by providing sophisticated solutions for screening, imaging interpretation, histopathological analysis, and treatment planning. This literature review digs into the many uses of AI in breast cancer treatment, highlighting the need for collaboration between AI scientists and healthcare practitioners. It emphasizes advances in AI-driven breast imaging interpretation, such as computer-aided detection and diagnosis (CADe/CADx) systems and deep learning algorithms. These have shown significant potential for improving diagnostic accuracy and lowering radiologists' workloads. Furthermore, AI approaches such as deep learning have been used in histopathological research to accurately predict hormone receptor status and categorize tumor-associated stroma from regular H&E stains. These AI-powered approaches simplify diagnostic procedures while providing insights into tumor biology and prognosis. As AI becomes more embedded in breast cancer care, it is crucial to ensure its ethical, efficient, and patient-focused implementation to improve outcomes for breast cancer patients ultimately.

Keywords: breast cancer, artificial intelligence, cancer diagnosis, clinical practice

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Authors: Mahvish Maqbool, Muhmmad Sohail Sajid

Abstract:

Ticks (Acari: Ixodidae); bloodsucking parasites of domestic animals, have significant importance in the transmission of diseases and causing huge economic losses. This study aimed to screen endophilic ticks for the Piroplasms using polymerase chain reaction in three districts Sialkot, Gujranwala and Gujarat of Punjab, Pakistan. Ticks were dissected under a stereomicroscope, and internal organs (midguts& salivary glands) were procured to generate pools of optimum weights. DNA extraction was done through standard protocol followed by primer specific PCR for Piroplasma spp. A total of 22.95% tick pools were found positive for piroplasma spp. In districts, Sialkot and Gujranwala Piroplasma prevalence are higher in riverine animals while in Gujarat Prevalence is higher in non-riverine animals. Female animals were found more prone to piroplasma as compared to males. This study will provide useful data on the distribution of Piroplasma in the vector population of the study area and devise future recommendations for better management of ruminants to avoid subclinical and clinical infections and vector transmitted diseases.

Keywords: babesia, hyalomma, piroplasmposis, tick infectivity

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