Search results for: genetic diagnosis

Authors: Arnab Hazra

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Breath analysis is a quick, noninvasive and inexpensive technique for disease diagnosis can be used on people of all ages without any risk. Only a limited number of volatile organic compounds (VOCs) can be associated with the occurrence of specific diseases. These VOCs can be considered as disease markers or breath markers. Selective detection with specific concentration of breath marker in exhaled human breath is required to detect a particular disease. For example, acetone (C₃H₆O), ethanol (C₂H₅OH), ethane (C₂H₆) etc. are the breath markers and abnormal concentrations of these VOCs in exhaled human breath indicates the diseases like diabetes mellitus, renal failure, breast cancer respectively. Nanomaterial-based vapor sensors are inexpensive, small and potential candidate for the detection of breath markers. In practical measurement, selectivity is the most crucial issue where trace detection of breath marker is needed to identify accurately in the presence of several interfering vapors and gases. Current article concerns a novel technique for selective and lower ppb level detection of breath markers at very low temperature based on TiO₂ nanotube array based vapor sensor devices. Highly ordered and oriented TiO₂ nanotube array was synthesized by electrochemical anodization of high purity tatinium (Ti) foil. 0.5 wt% NH₄F, ethylene glycol and 10 vol% H₂O was used as the electrolyte and anodization was carried out for 90 min with 40 V DC potential. Au/TiO₂ Nanotube/Ti, sandwich type sensor device was fabricated for the selective detection of VOCs in low concentration range. Initially, sensor was characterized where resistive and capacitive change of the sensor was recorded within the valid concentration range for individual breath markers (or organic vapors). Sensor resistance was decreased and sensor capacitance was increased with the increase of vapor concentration. Now, the ratio of resistive slope (mR) and capacitive slope (mC) provided a concentration independent constant term (M) for a particular vapor. For the detection of unknown vapor, ratio of resistive change and capacitive change at any concentration was same to the previously calculated constant term (M). After successful identification of the target vapor, concentration was calculated from the straight line behavior of resistance as a function of concentration. Current technique is suitable for the detection of particular vapor from a mixture of other interfering vapors.

Keywords: breath marker, vapor sensors, selective detection, TiO₂ nanotube array

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Authors: Prachi Sharma, B. V. Ramkumar

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In current days, autism is a well-known neurodevelopmental disorder that may restrict child development globally. Ignorance or delayed identification or incorrect diagnosis of autism is a major challenge in controlling such an incurable disorder. This may lead to various behavioural complications followed by mental illness in adulthood. Autism is an incurable disorder that is progressive and negatively affects our development globally. This may vary in degree in different skills. However, a deviation from the normal range creates a complex outcome in social and communication areas and restricts or deviates cognitive ability. The primary goal of the present research is to identify and understand the deviations in cognitive, social communication, and behaviour in children during their growing age, with a focus on autism. In this study, five children with mild autism were taken. All the children had achieved normal developmental milestones until the age of one year. The maximum age of observation of children’s development was four years to see the difference in their developmental rates in the areas of cognitive, social communication, and behaviour. The study is based on the parental report about their children from 1 year to 4 years. Videos and pictures of children during their development were also seen as a reference to verify information received by the parents of the children. This research is qualitative, with samples for which were selected using a purposive sampling technique. The data was collected from the OPD, NIEPID RC, NOIDA, India. The data was collected in the form of parental reports based on their observations about their kids. Videos were also seen to verify the information reported by the parents (just shown to verify the facts, not shared). In results, we observed a significant difference in the rate of development in all five children taken for this research. The children having mild autism, at present, showed variations in all three domains (cognitive, social communication, and behaviour). These variations were seen in terms of restricted development in global areas. The result revealed that typical features of ASD had created more cognitive restrictions as compared to the children having ASD features with hyperactivity. Behavioral problems were observed with different levels of severity in the children having ASD with hyperactivity, whereas children with typical ASD are found with some typical problem behaviours like head banging, body rocking, self-biting, etc., with different levels of severity. The social-communication area was observed as equally affected in all children, as no major difference was found in the information received from each parent.

Keywords: autism/ASD, behaviour, cognitive skill, hyperactivity, social-communication skill

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Authors: Bridgette Merriman, Wen Fan

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Background: Existing cancer survivorship literature explores varying physical, psychosocial, and psychological late effects experienced by survivors of childhood cancer. However, adolescent and young adult (AYA) survivors of childhood cancer are understudied compared to their adult and pediatric cancer counterparts. Furthermore, existing quality of life (QoL) research fails to account for how cancer survivorship affects survivors across the lifespan. Given that prior research suggests positive cognitive appraisals of adverse events - such as cancer - mitigate detrimental psychosocial symptomologies later in life; it is crucial to understand cancer’s impacts on AYA survivors of childhood malignancies across the life course in order to best support these individuals and prevent maladaptive psychosocial outcomes. Methods: This qualitative study adopted the life-course perspective to investigate the experiences of AYA survivors of childhood malignancies. Eligible patients included AYA 21-30 years old who were diagnosed with cancer <18 years old and off active treatment for >2 years. Participants were recruited through social media posts. Study fulfillment included taking part in one semi-structured video interview to explore areas of survivorship previously identified as being specific to AYA survivors. Interviews were transcribed, coded, and analyzed in accordance with narrative analysis and life-course theory. This study was approved by the Boston College Institutional Review Board. Results: Of 28 individuals who met inclusion criteria and expressed interest in the study, nineteen participants (12 women, 7 men, mean age 25.4 years old) completed the study. Life course theory analysis revealed that events relating to childhood cancer are interconnected throughout the life course rather than isolated events. This “trail of survivorship” includes age at diagnosis, transitioning to life after cancer, and relationships with other childhood survivors. Despite variability in objective characteristics surrounding these events, participants recalled positive experiences regarding at least one checkpoint, ultimately finding positive meaning from their cancer experience. Conclusions: These findings suggest that favorable subjective experiences at these checkpoints are critical in fostering positive conceptions of childhood malignancy for AYA survivors of childhood cancer. Ultimately, healthcare professionals and communities may use these findings to guide support resources and interventions for childhood cancer patients and AYA survivors, therein minimizing detrimental psychosocial effects and maximizing resiliency.

Keywords: medical sociology, pediatric oncology, survivorship, qualitative, life course perspective

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Authors: Habtamu Abera Goshu, Ping Yan

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Copy number variation (CNV) is a significant marker of the genetic and phenotypic diversity among individuals that accounts for complex quantitative traits of phenotype and diseases via modulating gene dosage, position effects, alteration of downstream pathways, modification of chromosome structure, and position within the nucleus and disrupting coding regions in the genome. Associating copy number variations (CNVs) with growth and gene expression are a powerful approach for identifying genomic characteristics that contribute to phenotypic and genotypic variation. A previous study using next-generation sequencing illustrated that the choline kinase beta (CHKB), Krüpple-like factor 6 (KLF6), glypican 1(GPC1), and cholinergic receptor muscarinic 3 (CHRM3) genes reside within copy number variable regions (CNVRs) of yak populations that overlap with quantitative trait loci (QTLs) of meat quality and growth. As a result, this research aimed to determine the association of CNVs of the KLF6, CHKB, GPC1, and CHRM3 genes with growth traits in the Datong yak breed. The association between the CNV types of the KLF6, CHKB, GPC1, and CHRM3 genes and the growth traits in the Datong yak breed was determined by one-way analysis of variance (ANOVA) using SPSS software. The CNV types were classified as a loss (a copy number of 0 or 1), gain (a copy number >2), and normal (a copy number of 2) relative to the reference gene, BTF3 in the 387 individuals of Datong yak. These results indicated that the normal CNV types of the CHKB and GPC1 genes were significantly (P<0.05) associated with high body length, height and weight, and chest girth in six-month-old and five-year-old Datong yaks. On the other hand, the loss CNV types of the KLF6 gene is significantly (P<0.05) associated with body weight and length and chest girth at six-month-old and five-year-old Datong yaks. In the contrary, the gain CNV type of the CHRM3 gene is highly (P<0.05) associated with body weight, length, height, and chest girth in six-month-old and five-year-old. This work provides the first observation of the biological role of CNVs of the CHKB, KLF6, GPC1, and CHRM3 genes in the Datong yak breed and might, therefore, provide a novel opportunity to utilize data on CNVs in designing molecular markers for the selection of animal breeding programs for larger populations of various yak breeds. Therefore, we hypothesized that this study provided inclusive information on the application of CNVs of the CHKB, KLF6, GPC1, and CHRM3 genes in growth traits in Datong yaks and its possible function in bovine species.

Keywords: Copy number variation, growth traits, yak, genes

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Authors: Yuri V. Bykov, V. A. Baturin

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Aim of the study: The aim of the study was to perform a comparative analysis of the levels of autoantibodies (AAB) to the S-100 protein as well as to the dopamine and NMDA receptors in children with type 1 diabetes mellitus (DM) in therapeutic remission. Materials and methods: Blood serum obtained from 42 children ages 4 to 17 years (20 boys and 22 girls) was analyzed. Twenty-one of these children had a diagnosis of type 1 DM and were in therapeutic remission (study group). The mean duration of disease in children with type 1 DM was 9.6±0.36 years. Children without DM were included in a group of "apparently healthy children" (21 children, comparison group). AAB to the S-100 protein, the dopamine, and NMDA receptors were measured by ELISA. The normal range of IgG AAB was specified as up to 10 µg/mL. In order to compare the central parameters of the groups, the following parametric and non-parametric methods were used: Student's t-test or Mann-Whitney U test. The level of significance for inter-group comparisons was set at p<0.05. Results: The mean levels of AAB to the S-100B protein were significantly higher (p=0.0045) in children with DM (16.84±1.54 µg/mL) when compared with "apparently healthy children" (2.09±0.05 µg/mL). The detected elevated levels of AAB to NMDA receptors may indicate that in children with type 1 DM, there is a change in the activity of the glutamatergic system, which in its turn suggests the presence of excitotoxicity. The mean levels of AAB to dopamine receptors were higher (p=0.0082) in patients comprising the study group than in the children of the comparison group (40.47±2.31 µg/mL and 3.91±0.09 µg/mL). The detected elevated levels of AAB to dopamine receptors suggest an altered activity of the dopaminergic system in children with DM. This can also be viewed as indirect evidence of altered activity of the brain's glutamatergic system. The mean levels of AAB to NMDA receptors were higher in patients with type 1 DM compared with the "apparently healthy children," at 13.16±2.07 µg/mL and 1.304±0.05 µg/mL, respectively (p=0.0021). The elevated mean levels of AAB to the S-100B protein may indicate damage to brain tissue in children with type 1 DM. A difference was also detected between the mean values of the measured AABs, and this difference depended on the duration of the disease: mean AAB values were significantly higher in patients whose disease had lasted more than five years. Conclusions: The elevated mean levels of AAB to the S-100B protein may indicate damage to brain tissue in the setting of excitotoxicity in children with type 1 DM. The discovered elevation of the levels of AAB to NMDA and dopamine receptors may indicate the activation of the glutamatergic and dopaminergic systems. The observed abnormalities indicate the presence of central nervous system damage in children with type 1 DM, with a tendency towards the elevation of the levels of the studied AABs with disease progression.

Keywords: autoantibodies, brain damage, children, diabetes mellitus

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Authors: Christelle E. Chua, Alicia L. Ho

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The development of a panel of differential gene expression signatures has been of interest in the field of biomarker discovery for radiation exposure. In the absence of the availability of exposed human subjects, lymphocyte cell lines have often been used as a surrogate to human whole blood, when performing ex vivo irradiation studies. The extent of variation between different lymphocyte cell lines is currently unclear, especially with regard to the expression of extracellular miRNA. This study compares the expression profile of extracellular miRNA isolated from different lymphocyte cell lines. It also compares the profile of miRNA obtained when different exosome isolation kits are used. Lymphocyte cell lines were created using lymphocytes isolated from healthy adult males of similar racial descent (Chinese American and Chinese Singaporean) and immortalised with Epstein-Barr virus. The cell lines were cultured in exosome-free cell culture media for 72h and the cell culture supernatant was removed for exosome isolation. Two exosome isolation kits were used. Total exosome isolation reagent (TEIR, ThermoFisher) is a polyethylene glycol (PEG)-based exosome precipitation kit, while ExoSpin (ES, Cell Guidance Systems) is a PEG-based exosome precipitation kit that includes an additional size exclusion chromatography step. miRNA from the isolated exosomes were isolated using miRNEASY minikit (Qiagen) and analysed using nCounter miRNA assay (Nanostring). Principal component analysis (PCA) results suggested that the overall extracellular miRNA expression profile differed between the lymphocyte cell line originating from the Chinese American donor and the cell line originating from the Chinese Singaporean donor. As the gender, age and racial origins of both donors are similar, this may suggest that there are other genetic or epigenetic differences that account for the variation in extracellular miRNA gene expression in lymphocyte cell lines. However, statistical analysis showed that only 3 miRNA genes had a fold difference > 2 at p < 0.05, suggesting that the differences may not be of that great a significance as to impact overall conclusions drawn from different cell lines. Subsequent analysis using cell lines from other donors will give further insight into the reproducibility of results when difference cell lines are used. PCA results also suggested that the method of exosome isolation impacted the expression profile. 107 miRNA had a fold difference > 2 at p < 0.05. This suggests that the inclusion of an additional size exclusion chromatography step altered the subset of the extracellular vesicles that were isolated. In conclusion, these results suggest that extracellular miRNA can be isolated and analysed from exosomes derived from lymphocyte cell lines. However, care must be taken in the choice of cell line and method of exosome isolation used.

Keywords: biomarker, extracellular miRNA, isolation methods, lymphocyte cell line

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Authors: W. Hajuthman, R. Warner, S. Rahman, M. Abraham, H. Helliwell, D. Bodiwala

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Context: Prostate cancer is a prevalent cancer in males in Europe and the US, with diagnosis primarily relying on PSA testing, mpMRI, and subsequent biopsies. However, this diagnostic strategy may lead to complications for patients. Research Aim: The aim of this study is to assess compliance with trust guidelines for antibiotic prophylaxis in patients undergoing transperineal template biopsies of the prostate and evaluate the rate of post-procedure complications. Methodology: This study is conducted retrospectively over an 8-month period. Data collection includes patient demographics, compliance with trust guidelines, associated risk factors, and post-procedure complications such as infection, haematuria, and urinary retention. Findings: The audit includes 100 patients with a median age of 66.11. The compliance with pre-procedure antibiotics was 98%, while compliance with antibiotic prophylaxis recommended by trust guidelines was 68%. Among the patients, 3% developed post-procedure sepsis, with 2 requiring admission for intravenous antibiotics. No evident risk factors were identified in these cases. Additionally, post-procedure urinary retention occurred in 3% of patients and post-procedure haematuria in 2%. Theoretical Importance: This study highlights the increasing use of transperineal template biopsies across UK centres and suggests that having a standardized protocol and compliance with guidelines can reduce confusion, ensure appropriate administration of antibiotics, and mitigate post-procedure complications. Data Collection and Analysis Procedures: Data for this study is collected retrospectively, involving the extraction and analysis of relevant information from patient records over the specified 8-month period. Question Addressed: This study addresses the following research questions: (1) What is the compliance rate with trust guidelines for antibiotic prophylaxis in transperineal template biopsies of the prostate? (2) What is the rate of post-procedure complications, such as infection, haematuria, and urinary retention? Conclusion: Transperineal template biopsies are becoming increasingly prevalent in the UK. Implementing a standardized protocol and ensuring compliance with guidelines can reduce confusion, ensure proper administration of antibiotics, and potentially minimize post-procedure complications. Additionally, considering that studies show no difference in outcomes when prophylactic antibiotics are not used, the reminder to follow trust guidelines may prompt a re-evaluation of antibiotic prescribing practices.

Keywords: prostate, transperineal template biopsies of prostate, antibiotics, complications, microbiology, guidelines

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Authors: Areti Angeliki Veroniki, Sofia Tsokani, Evangelos Paraskevaidis, Dimitris Mavridis

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The plethora of diagnostic test accuracy (DTA) studies has led to the increased use of systematic reviews and meta-analysis of DTA studies. Clinicians and healthcare professionals often consult DTA meta-analyses to make informed decisions regarding the optimum test to choose and use for a given setting. For example, the human papilloma virus (HPV) DNA, mRNA, and cytology can be used for the cervical intraepithelial neoplasia grade 2+ (CIN2+) diagnosis. But which test is the most accurate? Studies directly comparing test accuracy are not always available, and comparisons between multiple tests create a network of DTA studies that can be synthesized through a network meta-analysis of diagnostic tests (DTA-NMA). The aim is to summarize the DTA-NMA methods for at least three index tests presented in the methodological literature. We illustrate the application of the methods using a real data set for the comparative accuracy of HPV DNA, HPV mRNA, and cytology tests for cervical cancer. A search was conducted in PubMed, Web of Science, and Scopus from inception until the end of July 2019 to identify full-text research articles that describe a DTA-NMA method for three or more index tests. Since the joint classification of the results from one index against the results of another index test amongst those with the target condition and amongst those without the target condition are rarely reported in DTA studies, only methods requiring the 2x2 tables of the results of each index test against the reference standard were included. Studies of any design published in English were eligible for inclusion. Relevant unpublished material was also included. Ten relevant studies were finally included to evaluate their methodology. DTA-NMA methods that have been presented in the literature together with their advantages and disadvantages are described. In addition, using 37 studies for cervical cancer obtained from a published Cochrane review as a case study, an application of the identified DTA-NMA methods to determine the most promising test (in terms of sensitivity and specificity) for use as the best screening test to detect CIN2+ is presented. As a conclusion, different approaches for the comparative DTA meta-analysis of multiple tests may conclude to different results and hence may influence decision-making. Acknowledgment: This research is co-financed by Greece and the European Union (European Social Fund- ESF) through the Operational Programme «Human Resources Development, Education and Lifelong Learning 2014-2020» in the context of the project “Extension of Network Meta-Analysis for the Comparison of Diagnostic Tests ” (MIS 5047640).

Keywords: colposcopy, diagnostic test, HPV, network meta-analysis

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Authors: Neelam Kadyan, Pratima Ranga, Yogender

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Indigenous people are the One who are affected by the climate change the most, although there have contributed little to its causes. This is largely a result of their historic dependence on local biological diversity, ecosystem services and cultural landscapes as a source of their sustenance and well-being. Comprising only four percent of the world’s population they utilize 22 percent of the world’s land surface. Despite their high exposure-sensitivity indigenous peoples and local communities are actively responding to changing climatic conditions and have demonstrated their resourcefulness and resilience in the face of climate change. Traditional Indigenous territories encompass up to 22 percent of the world’s land surface and they coincide with areas that hold 80 percent of the planet’s biodiversity. Also, the greatest diversity of indigenous groups coincides with the world’s largest tropical forest wilderness areas in the Americas (including Amazon), Africa, and Asia, and 11 percent of world forest lands are legally owned by Indigenous Peoples and communities. This convergence of biodiversity-significant areas and indigenous territories presents an enormous opportunity to expand efforts to conserve biodiversity beyond parks, which tend to benefit from most of the funding for biodiversity conservation. Tapping on Ancestral Knowledge Indigenous Peoples are carriers of ancestral knowledge and wisdom about this biodiversity. Their effective participation in biodiversity conservation programs as experts in protecting and managing biodiversity and natural resources would result in more comprehensive and cost effective conservation and management of biodiversity worldwide. Addressing the Climate Change Agenda Indigenous Peoples has played a key role in climate change mitigation and adaptation. The territories of indigenous groups who have been given the rights to their lands have been better conserved than the adjacent lands (i.e., Brazil, Colombia, Nicaragua, etc.). Preserving large extensions of forests would not only support the climate change objectives, but it would respect the rights of Indigenous Peoples and conserve biodiversity as well. A climate change agenda fully involving Indigenous Peoples has many more benefits than if only government and/or the private sector are involved. Indigenous peoples are some of the most vulnerable groups to the negative effects of climate change. Also, they are a source of knowledge to the many solutions that will be needed to avoid or ameliorate those effects. For example, ancestral territories often provide excellent examples of a landscape design that can resist the negatives effects of climate change. Over the millennia, Indigenous Peoples have developed adaptation models to climate change. They have also developed genetic varieties of medicinal and useful plants and animal breeds with a wider natural range of resistance to climatic and ecological variability.

Keywords: ancestral knowledge, cost effective conservation, management, indigenous peoples, climate change

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Authors: Mohit Kumar, Beklashwar Salona, Shiv Murti, Mukesh Singh

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We report here a case of five-months old male baby, born as second child of non-consanguineous parents with no considerable history of genetic abnormality which was referred to our cytogenetic laboratory for chromosomal analysis. Physical dysmorphic facial features including mongoloid face, cleft palate, simian crease, and developmental delay were observed. We present this case with unique balanced autosomal translocation of t(3;10)(p21;p13). The risk of phenotypic abnormalities based on de novo balanced translocation was estimated to be 7%. The association of balanced chromosomal rearrangement with Down syndrome features such as multiple congenital anomalies, facial dysmorphism and congenital heart anomalies are very rare in a 5-months old male child. Trisomy-21 is not uncommon in chromosomal abnormality with the birth defect and balanced translocations are frequently observed in patients with secondary infertility or recurrent spontaneous abortion (RSA). Two ml heparinized peripheral blood cells cultured in RPMI-1640 for 72 hours supplemented with 20% fetal bovine serum, phytohemagglutinin (PHA), and antibiotics were used for chromosomal analysis. A total 30 metaphases images were captured using Olympus-BX51 microscope and analyzed using Bio-view karyotyping software through GTG-banding (G bands by trypsin and Giemsa) according to International System for Human Cytogenetic Nomenclature 2016. The results showed balanced translocation between short arm of chromosome # 3 and short arm of chromosome # 10. The karyotype of the child was found to be 46,XY,t(3;10)(p21; p13). Chromosomal abnormalities are one of the major causes of birth defect in new born babies. Also, balanced translocations are frequently observed in patients with secondary infertility or recurrent spontaneous abortion. The index case presented with dysmorphic facial features and had a balanced translocation 46,XY,t(3;10)(p21;p13). This translocation with break points at (p21; p13) has not been reported in the literature in a child with facial dysmorphism. To the best of our knowledge, this is the first report of novel balanced translocation t(3;10) with break points in a child with dysmorphic features. We found balanced chromosomal translocation instead of any trisomy or unbalanced aberrations along with some phenotypic abnormalities. Therefore, we suggest that such novel balanced translocation with abnormal phenotype should be reported in order to enable the pathologist, pediatrician, and gynecologist to have a better insight into the intricacies of chromosomal abnormalities and their associated phenotypic features. We hypothesized that dysmorphic features as seen in this case may be the result of change in the pattern of genes located at the breakpoint area in balanced translocations or may be due to deletion or mutation of genes located on the p-arm of chromosome # 3 and p-arm of chromosome # 10.

Keywords: balanced translocation, karyotyping, phenotypic abnormalities, facial dimorphisms

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Authors: B. Grygalewicz, R. Woroniecka, J. Rygier, K. Borkowska, A. Labak, B. Nowakowska, B. Pienkowska-Grela

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Introduction: Chronic lymphocytic leukemia (CLL) is the most common form of adult leukemia in the Western world. Hemizygous and or homozygous loss at 13q14 occur in more than half of cases and constitute the most frequent chromosomal abnormality in CLL. It is believed that deletions 13q14 play a role in CLL pathogenesis. Two microRNA genes miR-15a and miR- 16-1 are targets of 13q14 deletions and plays a tumor suppressor role by targeting antiapoptotic BCL2 gene. Deletion size, as a single change detected in FISH analysis, has haprognostic significance. Patients with small deletions, without RB1 gene involvement, have the best prognosis and the longest overall survival time (OS 133 months). In patients with bigger deletion region, containing RB1 gene, prognosis drops to intermediate, like in patients with normal karyotype and without changes in FISH with overall survival 111 months. Aim: Precise delineation of 13q14 deletions regions in two groups of CLL patients, with mono- and biallelic deletions and qualifications of their prognostic significance. Methods: Detection of 13q14 deletions was performed by FISH analysis with CLL probe panel (D13S319, LAMP1, TP53, ATM, CEP-12). Accurate deletion size detection was performed by CGH Haematological Cancer and SNP array (8x60K). Results: Our investigated group of CLL patients with the 13q14 deletion, detected by FISH analysis, comprised two groups: 18 patients with monoallelic deletions and 18 patients with biallelic deletions. In FISH analysis, in the monoallelic group the range of cells with deletion, was 43% to 97%, while in biallelic group deletion was detected in 11% to 94% of cells. Microarray analysis revealed precise deletion regions. In the monoallelic group, the range of size was 348,12 Kb to 34,82 Mb, with median deletion size 7,93 Mb. In biallelic group discrepancy of total deletions, size was 135,27 Kb to 33,33 Mb, with median deletion size 2,52 Mb. The median size of smaller deletion regions on one copy chromosome 13 was 1,08 Mb while the average region of bigger deletion on the second chromosome 13 was 4,04 Mb. In the monoallelic group, in 8/18 deletion region covered RB1 gene. In the biallelic group, in 4/18 cases, revealed deletion on one copy of biallelic deletion and in 2/18 showed deletion of RB1 gene on both deleted 13q14 regions. All minimal deleted regions included miR-15a and miR-16-1 genes. Genetic results will be correlated with clinical data. Conclusions: Application of CGH microarrays technique in CLL allows accurately delineate the size of 13q14 deletion regions, what have a prognostic value. All deleted regions included miR15a and miR-16-1, what confirms the essential role of these genes in CLL pathogenesis. In our investigated groups of CLL patients with mono- and biallelic 13q14 deletions, patients with biallelic deletion presented smaller deletion sizes (2,52 Mb vs 7,93 Mb), what is connected with better prognosis.

Keywords: CLL, deletion 13q14, CGH microarrays, SNP array

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Authors: Fadi Saleh, Çığdem Sezer Zhmurov

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Biopharmaceuticals represent one of the wildest developing fields within biotechnology, and the biological macromolecules being produced inside cells have a variety of applications for therapies. In the past, mammalian cells, especially CHO cells, have been employed in the production of biopharmaceuticals. This is because these cells can achieve human-like completion of PTM. These systems, however, carry apparent disadvantages like high production costs, vulnerability to contamination, and limitations in scalability. This research is focused on the utilization of microalgae as a bioreactor system for the synthesis of biopharmaceutical glycoproteins in relation to PTMs, particularly N-glycosylation. The research points to a growing interest in microalgae as a potential substitute for more conventional expression systems. A number of advantages exist in the use of microalgae, including rapid growth rates, the lack of common human pathogens, controlled scalability in bioreactors, and the ability of some PTMs to take place. Thus, the potential of microalgae to produce recombinant proteins with favorable characteristics makes this a promising platform in order to produce biopharmaceuticals. The study focuses on the examination of the N-glycosylation pathways across different species of microalgae. This investigation is important as N-glycosylation—the process by which carbohydrate groups are linked to proteins—profoundly influences the stability, activity, and general performance of glycoproteins. Additionally, bioinformatics methodologies are employed to explain the genetic pathways implicated in N-glycosylation within microalgae, with the intention of modifying these organisms to produce glycoproteins suitable for human consumption. In this way, the present comparative analysis of the N-glycosylation pathway in humans and microalgae can be used to bridge both systems in order to produce biopharmaceuticals with humanized glycosylation profiles within the microalgal organisms. The results of the research underline microalgae's potential to help improve some of the limitations associated with traditional biopharmaceutical production systems. The study may help in the creation of a cost-effective and scale-up means of producing quality biopharmaceuticals by modifying microalgae genetically to produce glycoproteins with N-glycosylation that is compatible with humans. Improvements in effectiveness will benefit biopharmaceutical production and the biopharmaceutical sector with this novel, green, and efficient expression platform. This thesis, therefore, is thorough research into the viability of microalgae as an efficient platform for producing biopharmaceutical glycoproteins. Based on the in-depth bioinformatic analysis of microalgal N-glycosylation pathways, a platform for their engineering to produce human-compatible glycoproteins is set out in this work. The findings obtained in this research will have significant implications for the biopharmaceutical industry by opening up a new way of developing safer, more efficient, and economically more feasible biopharmaceutical manufacturing platforms.

Keywords: microalgae, glycoproteins, post-translational modification, genome

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Authors: Alsu F. Saifitdinova, Alexey S. Komissarov, Svetlana A. Galkina, Elena I. Koshel, Maria M. Kulak, Stephen J. O'Brien, Elena R. Gaginskaya

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The mystery of sex determination is one of the most ancient and still not solved until the end so far. In many species, sex determination is genetic and often accompanied by the presence of dimorphic sex chromosomes in the karyotype. Genomic sequencing gave the information about the gene content of sex chromosomes which allowed to reveal their origin from ordinary autosomes and to trace their evolutionary history. Female-specific W chromosome in birds as well as mammalian male-specific Y chromosome is characterized by the degeneration of gene content and the accumulation of repetitive DNA. Tandem repeats complicate the analysis of genomic data. Despite the best efforts chicken W chromosome assembly includes only 1.2 Mb from expected 55 Mb. Supplementing the information on the sex chromosome composition not only helps to complete the assembly of genomes but also moves us in the direction of understanding of the sex-determination systems evolution. A whole-genome survey to the assembly Gallus_gallus WASHUC 2.60 was applied for repeats search in assembled genome and performed search and assembly of high copy number repeats in unassembled reads of SRR867748 short reads datasets. For cytogenetic analysis conventional methods of fluorescent in situ hybridization was used for previously cloned W specific satellites and specifically designed directly labeled synthetic oligonucleotide DNA probe was used for bioinformatically identified repetitive sequence. Hybridization was performed with mitotic chicken chromosomes and manually isolated giant meiotic lampbrush chromosomes from growing oocytes. A novel chicken W specific satellite (GGAAA)n which is not co-localizes with any previously described classes of W specific repeats was identified and mapped with high resolution. In the composition of autosomes this repeat units was found as a part of upstream regions of gonad specific protein coding sequences. These findings may contribute to the understanding of the role of tandem repeats in sex specific differentiation regulation in birds and sex chromosome evolution. This work was supported by the postdoctoral fellowships from St. Petersburg State University (#1.50.1623.2013 and #1.50.1043.2014), the grant for Leading Scientific Schools (#3553.2014.4) and the grant from Russian foundation for basic researches (#15-04-05684). The equipment and software of Research Resource Center “Chromas” and Theodosius Dobzhansky Center for Genome Bioinformatics of Saint Petersburg State University were used.

Keywords: birds, lampbrush chromosomes, sex chromosomes, tandem repeats

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Authors: Mariamawit T. Belete

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Cereal production and marketing are the means of livelihood for millions of households in Ethiopia. However, cereal production is constrained by technical and socio-economic factors. Among the technical factors, cereal crop diseases are the major contributing factors to the low yield. The aim of this research is to develop an integration of data mining and knowledge based system for sorghum anthracnose disease diagnosis that assists agriculture experts and development agents to make timely decisions. Anthracnose diagnosing systems gather information from Melkassa agricultural research center and attempt to score anthracnose severity scale. Empirical research is designed for data exploration, modeling, and confirmatory procedures for testing hypothesis and prediction to draw a sound conclusion. WEKA (Waikato Environment for Knowledge Analysis) was employed for the modeling. Knowledge based system has come across a variety of approaches based on the knowledge representation method; case-based reasoning (CBR) is one of the popular approaches used in knowledge-based system. CBR is a problem solving strategy that uses previous cases to solve new problems. The system utilizes hidden knowledge extracted by employing clustering algorithms, specifically K-means clustering from sampled anthracnose dataset. Clustered cases with centroid value are mapped to jCOLIBRI, and then the integrator application is created using NetBeans with JDK 8.0.2. The important part of a case based reasoning model includes case retrieval; the similarity measuring stage, reuse; which allows domain expert to transfer retrieval case solution to suit for the current case, revise; to test the solution, and retain to store the confirmed solution to the case base for future use. Evaluation of the system was done for both system performance and user acceptance. For testing the prototype, seven test cases were used. Experimental result shows that the system achieves an average precision and recall values of 70% and 83%, respectively. User acceptance testing also performed by involving five domain experts, and an average of 83% acceptance is achieved. Although the result of this study is promising, however, further study should be done an investigation on hybrid approach such as rule based reasoning, and pictorial retrieval process are recommended.

Keywords: sorghum anthracnose, data mining, case based reasoning, integration

Procedia PDF Downloads 76

Authors: Victor Au, Khin Maung Than, Zaw Win Aung, Linawati Jumat

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Background & Objectives: Cardiac arrests can occur anywhere or anytime, and most of the cases will be brought to the emergency department except the cases that happened in at in-patient setting. Raja IsteriPangiran Anak Saleha (RIPAS) Hospital is the only tertiary government hospital which located in Brunei Muara district and received all referral from other Brunei districts. Data of cardiac arrests in Brunei Darussalam scattered between Emergency Medical Ambulance Services (EMAS), Emergency Department (ED), general inpatient wards, and Intensive Care Unit (ICU). In this audit, we only focused on cardiac arrest cases which had happened or presented to the emergency department RIPAS Hospital. Theobjectives of this audit were to look at demographic of cardiac arrest cases and the survival to discharge rate of In-Hospital Cardiac Arrest (IHCA) and Out-Hospital Cardiac Arrest (OHCA). Methodology: This audit retrospective study was conducted on all cardiac arrest cases that underwent Cardiopulmonary Resuscitation (CPR) in ED RIPAS Hospital, Brunei Muara, in the year 2019-2020. All cardiac arrest cases that happened or were brought in to emergency department were included. All the relevant data were retrieved from ED visit registry book and electronic medical record “Bru-HIMS” with keyword diagnosis of “cardiac arrest”. Data were analyzed and tabulated using Excel software. Result: 313 cardiac arrests were recorded in the emergency department in year 2019-2020. 92% cases were categorized as OHCA, and the remaining 8% as IHCA. Majority of the cases were male with age between 50-60 years old. In OHCA subgroup, only 12.4% received bystander CPR, and 0.4% received Automatic External Defibrillator (AED) before emergency medical personnel arrived. Initial shockable rhythm in IHCA group accounted for 12% compare to 4.9% in OHCA group. Outcome of ED resuscitation, 32% of IHCA group achieved return of spontaneous circulation (ROSC) with a survival to discharge rate was 16%. For OHCA group, 12.35% achieved ROSC, but unfortunately, none of them survive till discharge. Conclusion: Standardized registry for cardiac arrest in the emergency department is required to provide valid baseline data to measure the quality and outcome of cardiac arrest. Zero survival rate for out hospital cardiac arrest is very concerning, and it might represent the significant breach in cardiac arrest chains of survival. Systematic prospective data collection is needed to identify contributing factors and to improve resuscitation outcome.

Keywords: cardiac arrest, OHCA, IHCA, resuscitation, emergency department

Procedia PDF Downloads 96

Authors: Maris Eugênia Dela Rosa, Ana Luiza Menegatti Pavan, Marcela De Oliveira, Diana Rodrigues De Pina, Luis Carlos Vulcano

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In medical veterinary as well as in human medicine, radiological study is essential for a safe diagnosis in clinical practice. Thus, the quality of radiographic image is crucial. In last year’s there has been an increasing substitution of image acquisition screen-film systems for computed radiology equipment (CR) without technical charts adequacy. Furthermore, to carry out a radiographic examination in veterinary patient is required human assistance for restraint this, which can compromise image quality by generating dose increasing to the animal, for Occupationally Exposed and also the increased cost to the institution. The image optimization procedure and construction of radiographic techniques are performed with the use of homogeneous phantoms. In this study, we sought to develop a homogeneous phantom of canine chest to be applied to the optimization of these images for the CR system. In carrying out the simulator was created a database with retrospectives chest images of computed tomography (CT) of the Veterinary Hospital of the Faculty of Veterinary Medicine and Animal Science - UNESP (FMVZ / Botucatu). Images were divided into four groups according to the animal weight employing classification by sizes proposed by Hoskins & Goldston. The thickness of biological tissues were quantified in a 80 animals, separated in groups of 20 animals according to their weights: (S) Small - equal to or less than 9.0 kg, (M) Medium - between 9.0 and 23.0 kg, (L) Large – between 23.1 and 40.0kg and (G) Giant – over 40.1 kg. Mean weight for group (S) was 6.5±2.0 kg, (M) 15.0±5.0 kg, (L) 32.0±5.5 kg and (G) 50.0 ±12.0 kg. An algorithm was developed in Matlab in order to classify and quantify biological tissues present in CT images and convert them in simulator materials. To classify tissues presents, the membership functions were created from the retrospective CT scans according to the type of tissue (adipose, muscle, bone trabecular or cortical and lung tissue). After conversion of the biologic tissue thickness in equivalent material thicknesses (acrylic simulating soft tissues, bone tissues simulated by aluminum and air to the lung) were obtained four different homogeneous phantoms, with (S) 5 cm of acrylic, 0,14 cm of aluminum and 1,8 cm of air; (M) 8,7 cm of acrylic, 0,2 cm of aluminum and 2,4 cm of air; (L) 10,6 cm of acrylic, 0,27 cm of aluminum and 3,1 cm of air and (G) 14,8 cm of acrylic, 0,33 cm of aluminum and 3,8 cm of air. The developed canine homogeneous phantom is a practical tool, which will be employed in future, works to optimize veterinary X-ray procedures.

Keywords: radiation protection, phantom, veterinary radiology, computed radiography

Procedia PDF Downloads 414

Authors: Hasan Al Banna, Nazmus Sakib, Anjan Roy

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From the perspective of the underdeveloped countries such as Bangladesh, health issue can readily be pointed out as the most demanding but the least promoted concern due to lack of initiatives from both government and NGOs. Furthermore an worldwide scenario is that most death and suffering from various pathogenic and non-pathogenic diseases occur due to delay diagnosis, and this happen for the lacking of regular health check-up facility or tradition. In this epistle, an innovative proposal on social business can be introduced to ensure the one-stop medical facility to the door-step of the rural society and create jobs for the educated rural youths to serve their own people. To illustrate the policy, this newly proposed organization will work as a health club which will offer a life-time membership to villagers within a very affordable fee of 250 BDT (2.63 Euro) per month. In this package the members will get the facility of tri-monthly full health check-up by specialist doctors, a health record book and computerized health database for each member and anytime medical consultancy for the members only. We will also organize free medical campaign and workshops on nutrition, sanitation, adulteration, pregnancy-care, child-health etc with the assistance of different sponsors. Among other services that will be provided on payment include emergency ambulance facility in low rents, quality diagnostic lab and 24-hour dispensary facility. Likewise, this policy will involve local educated people by recruiting them after providing intensive courses on nursing and other medical instrumental skills. Henceforth, the engagement of local youth will make the program more acceptable to the rural community. In the later part of this paper, a survey report on Daragram union of Manikganj district, Bangladesh, having population above 25000, will be presented to delineate the scenario how this policy can repay the initial capital expense of BDT 7 million (around 73381 Euro) within 5 years and how I can realistically earn handsome revenue from the first month of business. To recapitulate, this policy is very promising to enlighten the underprivileged community by providing health assurance, and alleviating unemployment besides the investor’s financial profit.

Keywords: create job for the rural people, handsome financial profit, quality health services, underprivileged areas of underdeveloped countries

Procedia PDF Downloads 424

Authors: G. V. Manzane, S. J. Modise

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Uterine fibroids, also known as leiomyomas or myomas, are non-cancerous growths that develop in the muscular wall of the uterus during the reproductive years. The cause of uterine fibroids includes hormonal, genetic, growth factors, and extracellular matrix factors. Common symptoms of uterine fibroids include heavy and prolonged menstrual bleeding which can lead to a high risk of anemia, lower abdominal pains, pelvic pressure, infertility, and pregnancy loss. The growth of this tumor is a concern because of its negative impact on women’s health and the increase in their economic burden. Traditional medicinal plants have long been used in Africa for their potential therapeutic effects against various ailments. In this study, we aimed to identify and characterize bioactive compounds from selected African medicinal plants with potential anti-fibrotic properties using Fourier-transform infrared spectroscopy (FTIR) and gas chromatography-mass spectrometry (GCMS) analysis. Two medicinal plant species known for their traditional use in fibrosis-related conditions were selected for investigation. Aqueous extracts were prepared from the plant materials, and FTIR analysis was conducted to determine the functional groups present in the extracts. GCMS analysis was performed to identify the chemical constituents of the extracts. The FTIR analysis revealed the presence of various functional groups, such as phenols, flavonoids, terpenoids, and alkaloids, known for their potential therapeutic activities. These functional groups are associated with antioxidant, anti-inflammatory, and anti-fibrotic properties. The GCMS analysis identified several bioactive compounds, including flavonoids, alkaloids, terpenoids, and phenolic compounds, which are known for their pharmacological activities. The discovery of bioactive compounds in African medicinal plants that exhibit anti-fibrotic effects, opens up promising avenues for further research and development of potential treatments for fibrosis. This suggests the potential of these plants as a valuable source of novel therapeutic agents for treating fibrosis-related conditions. In conclusion, our study identified and characterized bioactive compounds from selected African medicinal plants using FTIR and GCMS analysis. The presence of compounds with known antifibrotic properties suggests that these plants hold promise as a potential source of natural products for the development of novel anti-fibrotic therapies.

Keywords: uterine fibroids, african medicinal plants, bioactive compounds, identify and characterized

Procedia PDF Downloads 92

Authors: Mustafa Metin Donma

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Circumference measurements are important because they are easily obtained values for the identification of the weight gain without determining body fat. They may give meaningful information about the varying stages of obesity. Besides, some formulas may be derived from a number of body circumference measurements to estimate body fat. Waist (WC), hip (HC) and neck (NC) circumferences are currently the most frequently used measurements. The aim of this study was to develop a formula derived from these three anthropometric measurements, each giving a valuable information independently, to question whether their combined power within a formula was capable of being helpful for the differential diagnosis of morbid obesity without metabolic syndrome (MetS) from MetS. One hundred and eighty seven children were recruited from the pediatrics outpatient clinic of Tekirdag Namik Kemal University Faculty of Medicine. The parents of the participants were informed about asked to fill and sign the consent forms. The study was carried out according to the Helsinki Declaration. The study protocol was approved by the institutional non-interventional ethics committee. The study population was divided into four groups as normal-body mass index (N-BMI), obese (OB), morbid obese (MO) and MetS, which were composed of 35, 44, 75 and 33 children, respectively. Age- and gender-adjusted BMI percentile values were used for the classification of groups. The children in MetS group were selected based upon the nature of the MetS components described as MetS criteria. Anthropometric measurements, laboratory analysis and statistical evaluation confined to study population were performed. Body mass index values were calculated. A circumference index, advanced Donma circumference index (ADCI) was introduced as WC*HC/NC. The statistical significance degree was chosen as p value smaller than 0.05. Body mass index values were 17.7±2.8, 24.5±3.3, 28.8±5.7, 31.4±8.0 kg/m2, for N-BMI, OB, MO, MetS groups, respectively. The corresponding values for ADCI were 165±35, 240±42, 270±55, and 298±62. Significant differences were obtained between BMI values of N-BMI and OB, MO, MetS groups (p=0.001). Obese group BMI values also differed from MO group BMI values (p=0.001). However, the increase in MetS group compared to MO group was not significant (p=0.091). For the new index, significant differences were obtained between N-BMI and OB, MO, MetS groups (p=0.001). Obese group ADCI values also differed from MO group ADCI values (p=0.015). A significant difference between MO and MetS groups was detected (p=0.043). The correlation coefficient value and the significance check of the correlation was found between BMI and ADCI as r=0.0883 and p=0.001 upon consideration of all participants. In conclusion, in spite of the strong correlation between BMI and ADCI values obtained when all groups were considered, ADCI, but not BMI, was the index, which was capable of differentiating cases with morbid obesity from cases with morbid obesity and MetS.

Keywords: anthropometry, body mass index, child, circumference, metabolic syndrome, obesity

Procedia PDF Downloads 61

Authors: Showkat Ahmad Bhat, Iqra Reyaz, Falaque ul Afshan, Ahmad Arif Reshi, Muneeb U. Rehman, Manzoor R. Mir, Sabhiya Majid, Sonallah, Sheikh Bilal, Ishraq Hussain

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Background: Gastric cancer is the fourth most common cancer and the second leading cause of worldwide cancer-related deaths, with a wide variation in incidence rates across different geographical areas. The current view of cancer is that a malignancy arises from a transformation of the genetic material of a normal cell, followed by successive mutations and by chain of alterations in genes such as DNA repair genes, oncogenes, Tumor suppressor genes. Minerals are necessary for the functioning of several transcriptional factors, proteins that recognize certain DNA sequences and have been found to play a role in gastric cancer. Material Methods:The present work was a case control study and its aim was to ascertain the role of minerals and promoter hypermethylation of CpG islands of DAP-K gene in Gastric cancer patients among the Kashmiri population. Serum was extracted from all the samples and mineral estimation was done by AAS from serum, DNA was also extracted and was modified using bisulphite modification kit. Methylation-specific PCR was used for the analysis of the promoter hypermethylation status of DAP-K gene. The epigenetic analysis revealed that unlike other high risk regions, Kashmiri population has a different promoter hypermethylation profile of DAP-K gene and has different mineral profile. Results: In our study mean serum copper levels were significantly different for the two genders (p<0.05), while as no significant differences were observed for iron and zinc levels. In Methylation-specific PCR the methylation status of the promoter region of DAP-K gene was as 67.50% (27/40) of the gastric cancer tissues showed methylated DAP-K promoter and 32.50% (13/40) of the cases however showed unmethylated DAP-K promoter. Almost all 85% (17/20) of the histopathologically confirmed normal tissues showed unmethylated DAP-K promoter except only in 3 cases where DAP-K promoter was found to be methylated. The association of promoter hypermethylation with gastric cancer was evaluated by χ2 (Chi square) test and was found to be significant (P=0.0006). Occurrence of DAP-K methylation was found to be unequally distributed in males and females with more frequency in males than in females but the difference was not statistically significant (P =0.7635, Odds ratio=1.368 and 95% C.I=0.4197 to 4.456). When the frequency of DAP-K promoter methylation was compared with clinical staging of the disease, DAP-K promoter methylation was found to be certainly higher in Stage III/IV (85.71%) compared to Stage I/ II (57.69%) but the difference was not statistically significant (P =0.0673). These results suggest that DAP-K aberrant promoter hypermethylation in Kashmiri population contributes to the process of carcinogenesis in Gastric cancer and is reportedly one of the commonest epigenetic changes in the development of Gastric cancer.

Keywords: gastric cancer, minerals, AAS, hypermethylation, CpG islands, DAP-K gene

Procedia PDF Downloads 513

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

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Transient ischaemic attacks (TIAs) are warning signs for future strokes. TIA patients are at increased risk of stroke and cardio-vascular events after a first episode. A majority of studies on TIA focused on the occurrence of these ancillary events after a TIA. Long-term mortality after TIA received only limited attention. We undertook this study to determine the long-term hazards of all-cause mortality following a first episode of a TIA using anonymised electronic health records (EHRs). We used a retrospective case-control study using electronic primary health care records from The Health Improvement Network (THIN) database. Patients born prior to or in year 1960, resident in England, with a first diagnosis of TIA between January 1986 and January 2017 were matched to three controls on age, sex and general medical practice. The primary outcome was all-cause mortality. The hazards of all-cause mortality were estimated using a time-varying Weibull-Cox survival model which included both scale and shape effects and a random frailty effect of GP practice. 20,633 cases and 58,634 controls were included. Cases aged 39 to 60 years at the first TIA event had the highest hazard ratio (HR) of mortality compared to matched controls (HR = 3.04, 95% CI (2.91 - 3.18)). The HRs for cases aged 61-70 years, 71-76 years and 77+ years were 1.98 (1.55 - 2.30), 1.79 (1.20 - 2.07) and 1.52 (1.15 - 1.97) compared to matched controls. Aspirin provided long-term survival benefits to cases. Cases aged 39-60 years on aspirin had HR of 0.93 (0.84 - 1.00), 0.90 (0.82 - 0.98) and 0.88 (0.80 - 0.96) at 5 years, 10 years and 15 years, respectively, compared to cases in the same age group who were not on antiplatelets. Similar beneficial effects of aspirin were observed in other age groups. There were no significant survival benefits with other antiplatelet options. No survival benefits of antiplatelet drugs were observed in controls. Our study highlights the excess long-term risk of death of TIA patients and cautions that TIA should not be treated as a benign condition. The study further recommends aspirin as the better option for secondary prevention for TIA patients compared to clopidogrel recommended by NICE guidelines. Management of risk factors and treatment strategies should be important challenges to reduce the burden of disease.

Keywords: dual antiplatelet therapy (DAPT), General Practice, Multiple Imputation, The Health Improvement Network(THIN), hazard ratio (HR), Weibull-Cox model

Procedia PDF Downloads 140

Authors: Nahush Modak, Meena Pangarkar, Anand Pathak, Ankita Tamhane

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Background: Breast cancer is the prominent cause of cancer and mortality among women. This study was done to show the statistical analysis of a cohort of over 250 patients detected with breast cancer diagnosed by oncologists using Immunohistochemistry (IHC). IHC was performed by using ER; PR; HER2; Ki-67 antibodies. Materials and methods: Formalin fixed Paraffin embedded tissue samples were obtained by surgical manner and standard protocol was followed for fixation, grossing, tissue processing, embedding, cutting and IHC. The Ventana Benchmark XT machine was used for automated IHC of the samples. Antibodies used were supplied by F. Hoffmann-La Roche Ltd. Statistical analysis was performed by using SPSS for windows. Statistical tests performed were chi-squared test and Correlation tests with p<.01. The raw data was collected and provided by National Cancer Insitute, Jamtha, India. Result: Luminal B was the most prevailing molecular subtype of Breast cancer at our institute. Chi squared test of homogeneity was performed to find equality in distribution and Luminal B was the most prevalent molecular subtype. The worse prognostic indicator for breast cancer depends upon expression of Ki-67 and her2 protein in cancerous cells. Our study was done at p <.01 and significant dependence was observed. There exists no dependence of age on molecular subtype of breast cancer. Similarly, age is an independent variable while considering Ki-67 expression. Chi square test performed on Human epidermal growth factor receptor 2 (HER2) statuses of patients and strong dependence was observed in percentage of Ki-67 expression and Her2 (+/-) character which shows that, value of Ki depends upon Her2 expression in cancerous cells (p<.01). Surprisingly, dependence was observed in case of Ki-67 and Pr, at p <.01. This shows that Progesterone receptor proteins (PR) are over-expressed when there is an elevation in expression of Ki-67 protein. Conclusion: We conclude from that Luminal B is the most prevalent molecular subtype at National Cancer Institute, Jamtha, India. There was found no significant correlation between age and Ki-67 expression in any molecular subtype. And no dependence or correlation exists between patients’ age and molecular subtype. We also found that, when the diagnosis is Luminal A, out of the cohort of 257 patients, no patient shows >14% Ki-67 value. Statistically, extremely significant values were observed for dependence of PR+Her2- and PR-Her2+ scores on Ki-67 expression. (p<.01). Her2 is an important prognostic factor in breast cancer. Chi squared test for Her2 and Ki-67 shows that the expression of Ki depends upon Her2 statuses. Moreover, Ki-67 cannot be used as a standalone prognostic factor for determining breast cancer.

Keywords: breast cancer molecular subtypes , correlation, immunohistochemistry, Ki-67 and HR, statistical analysis

Procedia PDF Downloads 118

Authors: Ghada Abo-Zaid

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The main objective of this study was to examine the association between the elevated level of CRP and incidence of hypertension before and after adjusting by age, BMI, gender, SES, smoking, diabetes, cholesterol LDL and cholesterol HDL and to determine whether the association were differ by race. Method: Cross sectional data for participations from age 17 to age 74 years who included in The National Health and Nutrition Examination Survey (NHANES) from 1999 to 2010 were analysed. CRP level was classified into three categories ( > 3mg/L, between 1mg/LL and 3mg/L, and < 3 mg/L). Blood pressure categorization was done using JNC 7 algorithm Hypertension defined as either systolic blood pressure (SBP) of 140 mmHg or more and disystolic blood pressure (DBP) of 90mmHg or greater, otherwise a self-reported prior diagnosis by a physician. Pre-hypertension was defined as (139 > SBP > 120 or 89 > DPB > 80). Multinominal regression model was undertaken to measure the association between CRP level and hypertension. Results: In univariable models, CRP concentrations > 3 mg/L were associated with a 73% greater risk of incident hypertension compared with CRP concentrations < 1 mg/L (Hypertension: odds ratio [OR] = 1.73; 95% confidence interval [CI], 1.50-1.99). Ethnic comparisons showed that American Mexican had the highest risk of incident hypertension (odds ratio [OR] = 2.39; 95% confidence interval [CI], 2.21-2.58).This risk was statistically insignificant, however, either after controlling by other variables (Hypertension: OR = 0.75; 95% CI, 0.52-1.08,), or categorized by race [American Mexican: odds ratio [OR] = 1.58; 95% confidence interval [CI], 0,58-4.26, Other Hispanic: odds ratio [OR] = 0.87; 95% confidence interval [CI], 0.19-4.42, Non-Hispanic white: odds ratio [OR] = 0.90; 95% confidence interval [CI], 0.50-1.59, Non-Hispanic Black: odds ratio [OR] = 0.44; 95% confidence interval [CI], 0.22-0,87]. The same results were found for pre-hypertension, and the Non-Hispanic black showed the highest significant risk for Pre-Hypertension (odds ratio [OR] = 1.60; 95% confidence interval [CI], 1.26-2.03). When CRP concentrations were between 1.0-3.0 mg/L, in an unadjusted models prehypertension was associated with higher likelihood of elevated CRP (OR = 1.37; 95% CI, 1.15-1.62). The same relationship was maintained in Non-Hispanic white, Non-Hispanic black, and other race (Non-Hispanic white: OR = 1.24; 95% CI, 1.03-1.48, Non-Hispanic black: OR = 1.60; 95% CI, 1.27-2.03, other race: OR = 2.50; 95% CI, 1.32-4.74) while the association was insignificant with American Mexican and other Hispanic. In the adjusted model, the relationship between CRP and prehypertension were no longer available. In contrary, Hypertension was not independently associated with elevated CRP, and the results were the same after grouped by race or adjusted by the confounder variables. The same results were obtained when SBP or DBP were on a continuous measure. Conclusions: This study confirmed the existence of an association between hypertension, prehypertension and elevated level of CRP, however this association was no longer available after adjusting by other variables. Ethic group differences were statistically significant at the univariable models, while it disappeared after controlling by other variables.

Keywords: CRP, hypertension, ethnicity, NHANES, blood pressure

Procedia PDF Downloads 410

Authors: B. Petrović, M. Petrović, L. Rutonjski, I. Djan, V. Ivanović

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Objective: Cardiac pacemakers are very sensitive to radiotherapy treatment from two sources: electromagnetic influence from the medical linear accelerator producing ionizing radiation- influencing electronics within the pacemaker, and the absorption of dose to the device. On the other hand, patients with cardiac pacemakers at the place of a tumor are rather rare, and single clinic hardly has experience with the management of such patients. The widely accepted international guidelines for management of radiation oncology patients recommend that these patients should be closely monitored and examined before, during and after radiotherapy treatment by cardiologist, and their device and condition followed up. The number of patients having both cancer and pacemaker, is growing every year, as both cancer incidence, as well as cardiac diseases incidence, are inevitably growing figures. Materials and methods: Female patient, age 69, was diagnozed with valvular cardiomyopathy and got implanted a pacemaker in 2005 and prosthetic mitral valve in 1993 (cancer was diagnosed in 2012). She was stable cardiologically and came to radiation therapy department with the diagnosis of right breast cancer, with the tumor in upper lateral quadrant of the right breast. Since she had all lymph nodes positive (28 in total), she had to have irradiated the supraclavicular region, as well as the breast with the tumor bed. She previously received chemotherapy, approved by the cardiologist. The patient was estimated to be with the high risk as device was within the field of irradiation, and the patient had high dependence on her pacemaker. The radiation therapy plan was conducted as 3D conformal therapy. The delineated target was breast with supraclavicular region, where the pacemaker was actually placed, with the addition of a pacemaker as organ at risk, to estimate the dose to the device and its components as recommended, and the breast. The targets received both 50 Gy in 25 fractions (where 20% of a pacemaker received 50 Gy, and 60% of a device received 40 Gy). The electrode to the heart received between 1 Gy and 50 Gy. Verification of dose planned and delivered was performed. Results: Evaluation of the patient status according to the guidelines and especially evaluation of all associated risks to the patient during treatment was done. Patient was irradiated by prescribed dose and followed up for the whole year, with no symptoms of failure of the pacemaker device during, or after treatment in follow up period. The functionality of a device was estimated to be unchanged, according to the parameters (electrode impedance and battery energy). Conclusion: Patient was closely monitored according to published guidelines during irradiation and afterwards. Pacemaker irradiated with the full dose did not show any signs of failure despite recommendations data, but in correlation with other published data.

Keywords: cardiac pacemaker, breast cancer, radiotherapy treatment planning, complications of treatment

Procedia PDF Downloads 435

Authors: Mohammadreza Hedyehzadeh, Mahdi Yousefi

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Colon cancer is one of the most common cancer, which predicted to increase its prevalence due to the bad eating habits of peoples. Nowadays, due to the busyness of people, the use of fast foods is increasing, and therefore, diagnosis of this disease and its treatment are of particular importance. To determine the best treatment approach for each specific colon cancer patients, the oncologist should be known the stage of the tumor. The most common method to determine the tumor stage is TNM staging system. In this system, M indicates the presence of metastasis, N indicates the extent of spread to the lymph nodes, and T indicates the size of the tumor. It is clear that in order to determine all three of these parameters, an imaging method must be used, and the gold standard imaging protocols for this purpose are CT and PET/CT. In CT imaging, due to the use of X-rays, the risk of cancer and the absorbed dose of the patient is high, while in the PET/CT method, there is a lack of access to the device due to its high cost. Therefore, in this study, we aimed to estimate the tumor size and the extent of its spread to the lymph nodes using MR images. More than 1300 MR images collected from the TCIA portal, and in the first step (pre-processing), histogram equalization to improve image qualities and resizing to get the same image size was done. Two expert radiologists, which work more than 21 years on colon cancer cases, segmented the images and extracted the tumor region from the images. The next step is feature extraction from segmented images and then classify the data into three classes: T0N0، T3N1 و T3N2. In this article, the VGG-16 convolutional neural network has been used to perform both of the above-mentioned tasks, i.e., feature extraction and classification. This network has 13 convolution layers for feature extraction and three fully connected layers with the softmax activation function for classification. In order to validate the proposed method, the 10-fold cross validation method used in such a way that the data was randomly divided into three parts: training (70% of data), validation (10% of data) and the rest for testing. It is repeated 10 times, each time, the accuracy, sensitivity and specificity of the model are calculated and the average of ten repetitions is reported as the result. The accuracy, specificity and sensitivity of the proposed method for testing dataset was 89/09%, 95/8% and 96/4%. Compared to previous studies, using a safe imaging technique (MRI) and non-use of predefined hand-crafted imaging features to determine the stage of colon cancer patients are some of the study advantages.

Keywords: colon cancer, VGG-16, magnetic resonance imaging, tumor size, lymph node metastasis

Procedia PDF Downloads 52

Authors: Eze Chinwe Catherine, Orji Nkiru Marykate, Anyaegbunam L. C., Igbodika M.C.

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Uterine Leiomyomata (ULs) are the most frequently occurring pelvic and gynaecologic tumors in premenopausal women, occurring globally with a prevalence of 21.4%. UL represents a major public health problem in African women; therefore, this study aimed to reveal public health impact and risk factors associated with uterine leiomyomata among women in Imo state. A convenience sample of 2965 women was studied for gynaecological cases from October 2020 to March 2021 at the selected clinics of study. Eligible women were recruited to participate in a non interventional descriptive cross-sectional study. Data on socio demographic and gynaecological characteristics, BMI, parity, age, age at menarche, knowledge, attitudes, and perception were collected using a structured questionnaire, guided interviews, anthropometrics, and haematological tests. These were analyzed using SPSS Version 23. Associations between continuous variables were analysed appropriately and tested at 95% confidence level and standard error of 5%. A total of 652(22.0%) were diagnosed having uterine Leiomyomata (UL), and the overall prevalence of UF at clinics/Diagnostic centre in Imo State was 22%. A total of 652 women (46.1%) responded. More than half of the women had a parity of zero (1623: 54.8%), 664 (22.4%) had a parity of 1-2, and 491 (16.6%) had a parity of 3-4. Majority (68.6%) indicated that they experience an irregular menstrual cycle, and a similar proportion (67%) number experience pelvic pain. Age was found as a significant associating factor of uterine fibroids in this study (p=0.046, χ2= 6.158), lowest among the women between 16 to 25 years old and highest among the women between 36 – 45 years of age. The rate of UF was found to be 62.1% on the studied women menarche age of 11 years old or less while it was approximately 18% among the women whose age at menarche were at least 14 years old. Education ((p=0.003, χ²= 13.826), residency (p=0.066, χ²= 3.372). BMI (p= 0.000, χ²=102.36) were significantly associated with the risk of UL. Some of the Clinical presentation includes anaemia, abdominal pelvic mass, and infertility. The poor positive perception was obtained on the general perception (16.7%) as well as on treatment seeking behavior (28%). The study concluded that UL had a significant impact on health related quality of life on respondents due to its relatively high prevalence and their probable impact on patient’s quality of life.UL was especially prevalent in women aged between 36 to 45 years, nulliparous women, and women of higher BMI. Community enlightenment to enhance knowledge, attitude, and perception on fibroids and risk factors necessary to ensure early diagnosis and presentation, including patient centered treatment option.

Keywords: fibroids, prevalence, risk factors, body mass index, menarche, anaemia, KAP

Procedia PDF Downloads 154

Authors: Christine Winberg, James Garraway

Abstract:

Many key university documents, such as vision and mission statements and strategic plans, are aspirational and future-oriented. There is a wide range of future-oriented methods that are used in planning applications, ranging from mathematical modelling to expert opinions. Many of these methods have limitations, and planners using these tools might, for example, make the technical-rational assumption that their plans will unfold in a logical and inevitable fashion, thus underestimating the many complex forces that are at play in planning for an unknown future. This is the issue that this study addresses. The overall project aim was to assist a new university of technology in developing appropriate responses to its social responsibility, graduate employability and research missions in its strategic plan. The specific research question guiding the research activities and approach was: how might the use of innovative future-oriented planning tools enable or constrain a strategic planning process? The research objective was to engage collaborating groups in the use of an innovative tool to develop and assess future scenarios, for the purpose of developing deeper understandings of possible futures and their challenges. The scenario planning tool chosen was ‘fictive scripting’, an analytical technique derived from Technology Forecasting and Innovation Studies. Fictive scripts are future projections that also take into account the present shape of the world and current developments. The process thus began with a critical diagnosis of the present, highlighting its tensions and frictions. The collaborative groups then developed fictive scripts, each group producing a future scenario that foregrounded different institutional missions, their implications and possible consequences. The scripts were analyzed with a view to identifying their potential contribution to the university’s strategic planning exercise. The unfolding fictive scripts revealed a number of insights in terms of unexpected benefits, unexpected challenges, and unexpected consequences. These insights were not evident in previous strategic planning exercises. The contribution that this study offers is to show how better choices can be made and potential pitfalls avoided through a systematic foresight exercise. When universities develop strategic planning documents, they are looking into the future. In this paper it is argued that the use of appropriate tools for future-oriented exercises, can help planners to understand more fully what achieving desired outcomes might entail, what challenges might be encountered, and what unexpected consequences might ensue.

Keywords: fictive scripts, scenarios, strategic planning, technological forecasting

Procedia PDF Downloads 117

Authors: Hakan Duger, Alparslan Ersoy, Canan Ersoy

Abstract:

The improvement of surgical techniques in recent years has reduced the frequency of postoperative complications in kidney transplant recipients. Novel immunosuppressive agents have reduced rates of graft loss due to acute rejection to less than 1%. However, surgical complications may still lead graft loss and morbidity in recipients. Because of potent immunosuppression, impaired wound healing and complications are frequent after transplantation. We compared the frequency of post-operative surgical complications in diabetic and non-diabetic patients after kidney transplantation. Materials and Methods: This retrospective study conducted in consecutive patients (213 females, 285 males, median age 39 years) who underwent kidney transplant surgery at our center between December 2005 and October 2015. The patients were divided into two groups: diabetics (46 ± 10 year, 26 males, 16 females) and non-diabetics (39 ± 12 year, 259 males, 197 females). Characteristics of both groups were obtained from medical records. Results: We performed 225 living and 273 deceased donor transplantations. Renal replacement type was hemodialysis in 60.8%, peritoneal dialysis in 17.3% and preemptive in 12%. The mean body mass indexes of the recipients were 24 ± 4.6 kg/m², donor age was 48.6 ± 14.3 years, cold ischemic time was 11.3 ± 6.1 hours, surgery time was 4.9 ± 1.2 hours, and recovery time was 54±31 min. The mean hospitalization duration was 19.1 ± 13.5 days. The frequency of postoperative surgical complications was 43.8%. There was no significant difference between the ratios of post-operative surgical complications in non-diabetic (43.5%) and diabetic (47.4%) groups (p=0.648). Post-operative surgical complications were lymphocele (24.6% vs. 23.7%), delayed wound healing (13.2% vs. 7.6%), hematoma (7.8% vs.15.8 %), urinary leak (4.6% vs. 5.3%), hemorrhage (5.1% vs. 0%), hydronephrosis (2.2% vs. 0%), renal artery thrombosis (1.5% vs. 0%), renal vein thrombosis (1% vs. 2.6%), urinoma (0.7% vs. 0%), urinary obstruction (0.5% vs. 0%), ureteral stenosis (0.5% vs. 0%) and ureteral reflux (0.2% vs. 0%) in non-diabetic and diabetic groups, respectively (p > 0.05). Mean serum creatinine levels in non-diabetics and diabetics were 1.43 ± 0.81 and 1.61 ± 0.96 mg/dL at 1st month (p=0.198). At the 6th month, the mean graft and patient survival times in patients with post-operative surgical complications were significantly lower than in those who did not (162.9 ± 3.4 vs. 175.6 ± 1.5 days, p=0.008, and 171 ± 2.9 vs. 176.1 ± 1.6 days, p=0.047, respectively). However, patient survival durations of non-diabetic (173 ± 27) and diabetic (177 ± 13 day) groups were comparable (p=0.396). Conclusion: As a result, we concluded that surgical complications such as lymphocele and delayed wound healing were common and that frequency of these complications in diabetic recipients did not differ from non-diabetic one. All persons involved in the postoperative care of kidney transplant recipients be aware of the potential surgical complications for rapid diagnosis and treatment.

Keywords: kidney transplantation, diabetes mellitus, surgery, complication

Procedia PDF Downloads 177

Authors: M. G. Talasbayen, N. N. Dyussenbayev, Y. D. Kali, R. A. Zholbarysov, Y. N. Duissenbayev, I. Z. Mammadinova, S. M. Nuradilov

Abstract:

Background. Hemorrhagic stroke is an acute cerebrovascular accident resulting from rupture of a cerebral vessel or increased permeability of the wall and imbibition of blood into the brain parenchyma. Arterial hypertension is a common cause of hemorrhagic stroke. Male gender and age over 55 years is a risk factor for intracerebral hemorrhage. Treatment of intracerebral hemorrhage is aimed at the primary pathophysiological link: the relief of coagulopathy and the control of arterial hypertension. Early surgical treatment can limit cerebral compression; prevent toxic effects of blood to the brain parenchyma. Despite progress in the development of neuroimaging data, the use of minimally invasive techniques, and navigation system, mortality from intracerebral hemorrhage remains high. Materials and methods. The study included 78 patients (62.82% male and 37.18% female) with a verified diagnosis of hemorrhagic stroke in the period from 2019 to 2021. The age of patients ranged from 25 to 80 years, the average age was 54.66±11.9 years. Demographic, brain CT data (localization, volume of hematomas), methods of treatment, and disease outcome were analyzed. Results. The retrospective analyze demonstrate that 78.2% of all patients underwent surgical treatment: decompressive craniectomy in 37.7%, craniotomy with hematoma evacuation in 29.5%, and hematoma draining in 24.59% cases. The study of the proportion of deaths, depending on the volume of intracerebral hemorrhage, shows that the number of deaths was higher in the group with a hematoma volume of more than 60 ml. Evaluation of the relationship between the time before surgery and mortality demonstrates that the most favorable outcome is observed during surgical treatment in the interval from 3 to 24 hours. Mortality depending on age did not reveal a significant difference between age groups. An analysis of the impact of the surgery type on mortality reveals that decompressive craniectomy with or without hematoma evacuation led to an unfavorable outcome in 73.9% of cases, while craniotomy with hematoma evacuation and drainage led to mortality only in 28.82% cases. Conclusion. Even though the multimodal approaches, the development of surgical techniques and equipment, and the selection of optimal conservative therapy, the question of determining the tactics of managing and treating hemorrhagic strokes is still controversial. Nevertheless, our experience shows that surgical intervention within 24 hours from the moment of admission and craniotomy with hematoma evacuation improves the prognosis of treatment outcomes.

Keywords: hemorragic stroke, Intracerebral hemorrhage, surgical treatment, stroke mortality

Procedia PDF Downloads 102

Authors: Anne-Loes K. Warps, Rob A. E. M. Tollenaar, Pieter J. Tanis, Jan Willem T. Dekker

Abstract:

Anastomotic leakage after colorectal cancer surgery remains a severe complication. Early diagnosis and treatment are essential to prevent further adverse outcomes. In the literature, it has been suggested that earlier reintervention is associated with better survival, but anastomotic leakage can occur with a highly variable time interval to index surgery. This study aims to evaluate the time-interval between rectal cancer resection with primary anastomosis creation and reoperation, in relation to short-term outcomes, stratified for the use of a defunctioning stoma. Methods: Data of all primary rectal cancer patients that underwent elective resection with primary anastomosis during 2013-2019 were extracted from the Dutch ColoRectal Audit. Analyses were stratified for defunctioning stoma. Anastomotic leakage was defined as a defect of the intestinal wall or abscess at the site of the colorectal anastomosis for which a reintervention was required within 30 days. Primary outcomes were new stoma construction, mortality, ICU admission, prolonged hospital stay and readmission. The association between time to reoperation and outcome was evaluated in three ways: Per 2 days, before versus on or after postoperative day 5 and during primary versus readmission. Results: In total 10,772 rectal cancer patients underwent resection with primary anastomosis. A defunctioning stoma was made in 46.6% of patients. These patients had a lower anastomotic leakage rate (8.2% vs. 11.6%, p < 0.001) and less often underwent a reoperation (45.3% vs. 88.7%, p < 0.001). Early reoperations (< 5 days) had the highest complication and mortality rate. Thereafter the distribution of adverse outcomes was more spread over the 30-day postoperative period for patients with a defunctioning stoma. Median time-interval from primary resection to reoperation for defunctioning stoma patients was 7 days (IQR 4-14) versus 5 days (IQR 3-13 days) for no-defunctioning stoma patients. The mortality rate after primary resection and reoperation were comparable (resp. for defunctioning vs. no-defunctioning stoma 1.0% vs. 0.7%, P=0.106 and 5.0% vs. 2.3%, P=0.107). Conclusion: This study demonstrated that early reinterventions after anastomotic leakage are associated with worse outcomes (i.e. mortality). Maybe the combination of a physiological dip in the cellular immune response and release of cytokines following surgery, as well as a release of endotoxins caused by the bacteremia originating from the leakage, leads to a more profound sepsis. Another explanation might be that early leaks are not contained to the pelvis, leading to a more profound sepsis requiring early reoperations. Leakage with or without defunctioning stoma resulted in a different type of reinterventions and time-interval between surgery and reoperation.

Keywords: rectal cancer surgery, defunctioning stoma, anastomotic leakage, time-interval to reoperation

Procedia PDF Downloads 131