Search results for: genetic diagnosis

Authors: K. M. Damodara Gowda

Abstract:

Background: Maternal health and nutrition are considered as the predominant factors influencing brain functional development. If the mother is free of illness and genetic defects, maternal nutrition would be one of the most critical factors affecting the brain development. Calorie restrictions cause significant impairment in spatial learning ability and the levels of Brain Derived Neurotrophic Factor (BDNF) in rats. But, the mechanism by which the prenatal under-nutrition leads to impairment in brain learning and memory function is still unclear. In the present study, prenatal Astaxanthin supplementation on BDNF level, spatial learning and memory performance in the offspring’s of normal, calorie restricted and Astaxanthin supplemented rats was investigated. Methodology: The rats were administered with 6mg and 12 mg of astaxanthin /kg bw for 21 days following which acquisition and retention of spatial memory was tested in a partially-baited eight arm radial maze. The BDNF level in different regions of the brain (cerebral cortex, hippocampus and cerebellum) was estimated by ELISA method. Results: Calorie restricted animals treated with astaxanthin made significantly more correct choices (P < 0.05), and fewer reference memory errors (P < 0.05) on the tenth day of training compared to offsprings of calorie restricted animals. Calorie restricted animals treated with astaxanthin also made significantly higher correct choices (P < 0.001) than untreated calorie restricted animals in a retention test 10 days after the training period. The mean BDNF level in cerebral cortex, Hippocampus and cerebellum in Calorie restricted animals treated with astaxanthin didnot show significant variation from that of control animals. Conclusion: Findings of the study indicated that memory and learning was impaired in the offspring’s of calorie restricted rats which was effectively modulated by astaxanthin at the dosage of 12 mg/kg body weight. In the same way the BDNF level at cerebral cortex, Hippocampus and Cerebellum was also declined in the offspring’s of calorie restricted animals, which was also found to be effectively normalized by astaxanthin.

Keywords: calorie restiction, learning, Memory, Cerebral cortex, Hippocampus, Cerebellum, BDNF, Astaxanthin

Procedia PDF Downloads 231

Authors: Nandita Ghosh, Shinjini Mitra, Ena Ray Banerjee

Abstract:

Atopic dermatitis (AD) is a chronic disease of the skin, involving itchy, reddish, and scaly lesions. It mainly affects children and has a high prevalence in developing countries. The AD may occur due to environmental or genetic factors. There is no permanent cure for the AD. Currently, all therapeutic strategies involve methods to simply alleviate the symptoms, and include lotions and corticosteroids, which have adverse effects. Use of phytochemicals and natural products has not yet been exploited fully. The particle used in this study is derived from Cyamopsis tetragonoloba, an edible polysaccharide with a galactomannan component. The mannose component mainly increases its specificity towards cellular uptake by mannose receptors, highly expressed by the macrophage. The aim of this study was to determine the therapeutic effect of guar gum nanoparticles (GN) in vitro and in vivo in the AD. To assess the wound healing capacity of the guar gum nanoparticle (GN), we first treated adherent NIH3T3 cells, with a scratch injury, with GN. GN successfully healed the wound caused by the scratch. In the in vivo experiment, Balb/c mice ear were topically treated with oxazolone (oxa) to induce AD and then were topically treated with GN. The ear thickness was increased significantly till day 28 on the treatment of Oxa. The GN application showed a significant decrease in the thickness as assessed on day 28. The total cell count of skin cells showed fold increase when treated with oxa, was again decreased on topical application of GN on the affected skin. The eosinophil count, as assessed by Giemsa staining was also increased when treated with oxa, GN application led to a significant decrease. The IgE level was assessed in the serum samples which showed that GN helped in restoring the alleviated IgE level. The T helper cells and the macrophage population showed increased percentage when treated with oxa, the GN application. This was examined by flow cytometry. The H&E staining of the ear tissue showed epidermal thickness in the oxa treated mice, GN application showed reduced cellular filtration followed by epidermal thickness. Thus our assays showed that GN was successful in alleviating the disease caused by Oxa when administered topically.

Keywords: allergen, inflammation, nanodrug, wound

Procedia PDF Downloads 240

Authors: Nefzi Ahlem, Aydi Ben Abdallah Rania, Jabnoun-Khiareddine Hayfa, Ammar Nawaim, Mejda Daami-Remadi

Abstract:

Fusarium Crown and Root Rot (FCRR) caused by Fusarium oxysporum f. sp. radicis-lycopersici (FORL) is a serious tomato (Solanum lycopersicum L.) disease in Tunisia. Its management is very difficult due to the long survival of its resting structures and to the luck of genetic resistance. In this work, we explored the wild Solanaceae species Withania somnifera, growing in the Tunisian Centre-East, as a potential source of biocontrol agents effective in FCRR suppression and tomato growth promotion. Seven fungal isolates were shown able to colonize tomato roots, crowns, and stems. Used as conidial suspensions or cell-free culture filtrates, all tested fungal treatments significantly enhanced tomato growth parameters by 21.5-90.3% over FORL-free control and by 27.6-93.5% over pathogen-inoculated control. All treatments significantly decreased the leaf and root damage index by 28.5-92.8 and the vascular browning extent 9.7-86.4% over FORL-inoculated and untreated control. The highest disease suppression ability (decrease by 86.4-92.8% in FCRR severity) over pathogen-inoculated control and by 81.3-88.8 over hymexazol-treated control) was expressed by I6 based treatments. This endophytic fungus was morphologically characterized and identified using rDNA sequencing gene as Fusarium sp. I6 (MG835371). This fungus was shown able to reduce FORL radial growth by 58.5–83.2% using its conidial suspension or cell-free culture filtrate. Fusarium sp. I6 showed chitinolytic, proteolytic and amylase activities. The current study clearly demonstrated that Fusarium sp. (I6) is a promising biocontrol candidate for suppressing FCRR severity and promoting tomato growth. Further investigations are required for elucidating its mechanism of action involved in disease suppression and plant growth promotion.

Keywords: antifungal activity, associated fungi, Fusarium oxysporum f. sp. radicis-lycopersici, Withania somnifera, tomato growth

Procedia PDF Downloads 142

Authors: Zaka Nisa, Farooq Sher

Abstract:

Adverse drug reactions (ADRs) underreporting is a great challenge to Pharmacovigilance. Health care professionals have to consider ADR reporting as their professional obligation, an effective system of ADR reporting is important to improve patient health care and safety. The present study is designed to assess the knowledge, attitude, practice and factors associated with ADR reporting by health care professionals (physicians and pharmacists) in public and private hospitals of Pakistan. A pretested questionnaire was administered to 384 physicians and pharmacists in public and private hospitals. Respondents were evaluated for their knowledge, attitude, and practice related to ADR reporting. The data was analyzed using the SPSS statistical software, the factors which encourage and discourage respondents in reporting ADRs were determined. Most of the respondents have shown a positive attitude towards ADR reporting. The response rate was 95.32%. Of the 367 questionnaires, including 333 (86.5%) physicians and 34 (8.8%) pharmacists with the mean age 28.34 (SD= 6.69), most of the respondents showed poor ADR reporting knowledge (83.1%). The majority of respondents (78.2%) showed positive attitude towards ADR reporting and only (12.3%) hospitals have good ADR reporting practice. Knowledge of respondents in public hospitals (8.6%) was less as compare to those in the private hospitals (29.7%) (P < 0.001). Attitude of respondents in private hospitals was more positive (92.4%) than those in public hospitals (68.8%) (P < 0.001). No significant difference was observed in practicing of ADR reporting in public (11.8%) and private hospitals (13.1%) (P value 0.89). Seriousness of ADR, unusualness of reaction, new drug involvement and confidence in diagnosis of ADR were the factors which encourage respondents to report ADR, however, lack of knowledge regarding where and how to report ADR, lack of access to ADR reporting form, managing patients was more important than reporting ADR, legal liability issues were the factors which discourage respondents to report ADR. The study reveals poor knowledge and practice regarding ADR reporting. However positive attitude was seen regarding ADR reporting. There is a need of educational training for health care professionals as well as genuine and continuous efforts are required by Government and health authorities to ensure the proper implementation of ADR reporting system in all of the hospitals.

Keywords: adverse drugs reactions (ADR), pharmacovigilance, spontaneous ADR reporting, knowledge of ADR, attitude of health care profesionals, practice of ADR reporting

Procedia PDF Downloads 254

Authors: Firoozeh Ghazanfari, Kourosh Amraei, Parisa Poorabadi

Abstract:

Mild cognitive impairment is one of the neurocognitive disorders that go beyond age-related decline in cognitive functions, but in fact, it is not so severe which affects daily activities. This study aimed to investigate and compare the effectiveness of treatment with cranial electrical stimulation, brain training and their double combination on the language and verbal fluency of the elderly with mild cognitive impairment. This is a single-subject method with comparative intervention designs. Four patients with a definitive diagnosis of mild cognitive impairment by a psychiatrist were selected via purposive and convenience sampling method. Addenbrooke's Cognitive Examination Scale (2017) was used to assess language and verbal fluency. Two groups were formed with different order of cranial electrical stimulation treatment, brain training by pencil and paper method and their double combination, and two patients were randomly replaced in each group. The arrangement of the first group included cranial electrical stimulation, brain training, double combination and the second group included double combination, cranial electrical stimulation and brain training, respectively. Treatment plan included: A1, B, A2, C, A3, D, A4, where electrical stimulation treatment was given in ten 30-minutes sessions (5 mA and frequency of 0.5-500 Hz) and brain training in ten 30-minutes sessions. Each baseline lasted four weeks. Patients in first group who first received cranial electrical stimulation treatment showed a higher percentage of improvement in the language and verbal fluency subscale of Addenbrooke's Cognitive Examination in comparison to patients of the second group. Based on the results, it seems that cranial electrical stimulation with its effect on neurotransmitters and brain blood flow, especially in the brain stem, may prepare the brain at the neurochemical and molecular level for a better effectiveness of brain training at the behavioral level, and the selective treatment of electrical stimulation solitude in the first place may be more effective than combining it with paper-pencil brain training.

Keywords: cranial electrical stimulation, treatment, brain training, verbal fluency, cognitive impairment

Procedia PDF Downloads 83

Authors: Getachew Belay Kassahun

Abstract:

Background: Locally established clinical laboratory reference intervals (RIs) are required to interpret laboratory test results for screening, diagnosis, and prognosis. The objective of this study was to establish a reference interval of clinical chemistry parameters among apparently healthy adolescents aged between 12 and 17 years in Mekelle, Tigrai, in the northern part of Ethiopia. Methods: Community-based cross-sectional study was employed from December 2018 to March 2019 in Mekelle City among 172 males and 172 females based on a Multi-stage sampling technique. Blood samples were tested for Fasting blood sugar (FBS), alanine amino transferase (ALT), aspartate aminotransferase (AST), alkaline phosphatase (ALP), Creatinine, urea, total protein, albumin (ALB), direct and indirect bilirubin (BIL.D and BIL.T) using 25 Bio system clinical chemistry analyzer. Results were analyzed using SPSS version 23 software and based on the Clinical Laboratory Standard Institute (CLSI)/ International Federation of Clinical Chemistry (IFCC) C 28-A3 Guideline which defines the reference interval as the 95% central range of 2.5th and 97.5th percentiles. Mann Whitney U test, descriptive statistics and box and whisker were statistical tools used for analysis. Results: This study observed statistically significant differences between males and females in ALP, ALT, AST, Urea and Creatinine Reference intervals. The established reference intervals for males and females, respectively, were: ALP (U/L) 79.48-492.12 versus 63.56-253.34, ALT (U/L) 4.54-23.69 versus 5.1-20.03, AST 15.7- 39.1 versus 13.3- 28.5, Urea (mg/dL) 9.33-24.99 versus 7.43-23.11, and Creatinine (mg/dL) 0.393-0.957 versus 0.301-0.846. The combined RIs for Total Protein (g/dL) were 6.08-7.85, ALB (g/dL) 4.42-5.46, FBS(mg/dL) 65-110, BIL.D (mg/dL) 0.033-0.532, and BIL.T (mg/dL) 0.106-0.812. Conclusions: The result showed a marked difference between sex and company-derived values for selected clinical chemistry parameters. Thus, the use of age and sex-specific locally established reference intervals for clinical chemistry parameters is recommended.

Keywords: reference interval, adolescent, clinical chemistry, Ethiopia

Procedia PDF Downloads 73

Authors: Mehrdad Sheikhvatan, Mohammad Ali Boroumand, Mehrdad Behmanesh, Shayan Ziaee

Abstract:

Contradictory results have been obtained regarding the role of integrin, beta 3 (ITGB3) gene polymorphisms in occurrence of acute myocardial infarction (MI) in patients with coronary artery disease (CAD). Hence, we aimed to assess the association between 1565C/T polymorphism of ITGB3 gene and increased risk for acute MI in patients who suffered premature CAD in Iranian population. Our prospective study included 1000 patients (492 men and 508 women aged 21 to 55 years) referred to Tehran Heart center during a period of four years from 2008 to 2011 with the final diagnosis of premature CAD and classified into two groups with history of MI (n = 461) and without of MI (n = 539). The polymorphism variants were determined by PCR-RFLP technique by entering 10% of randomized samples and then genotyping of the polymorphism was also conducted by High Resolution Melting (HRM) method. Among study samples, 640 were followed with a median follow-up time 45.74 months for determining association of long-term major adverse cardiac events (MACE) and genotypes of polymorphisms. There was no significant difference in the frequency of 1565C/T polymorphism between the MI and non-MI groups. The frequency of wild genotype was 69.2% and 72.2%, the frequency of homozygous genotype was 21.3% and 18.4%, and the frequency of mutant genotype was 9.5% and 9.5%, respectively (p=0.505). Results were also similar when adjusted for covariates in a multivariate logistic regression model. No significant difference was also found in total-MACE free survival rate between the patients with different genotypes of 1565C/T polymorphism in both MI and non-MI group. The carriage of the 1565C/T polymorphism of ITGB3 gene seems unlikely to be a significant risk factor for the development of MI in Iranian patients with premature CAD. The presence of this ITGB3 gene polymorphism may not also predict long-term cardiac events.

Keywords: coronary artery disease, myocardial infarction, gene, integrin, beta 3, polymorphism

Procedia PDF Downloads 393

Authors: Arezoo Fallahi, Siamak Derakhshan, Parvaneh Taymoori, Babak Nematshahrbabaki

Abstract:

Background: Osteoporosis, the most common metabolic bone disease, is an important health care issue. Not only the cost of disease is high but also is one of the causes of disability and mortality and effect on quality of life. Although self-care is effective on disease, s control and treatment but still effective factors on self-care of patient, s viewpoint have not been survey. The aim of this study was to explore effective factors on self-care in women with osteoporosis. Materials and methods: This study was done by conventional content analysis approach in year 2014. Through purposeful sampling 15 women referred to bone mass densitometry centers participated in this study. Inclusion criteria were: Women older than 50 years old with osteoporosis, final diagnosis of osteoporosis for over six –month period, T-score index below -2.5 (lower back or hip), drug use by patients with a physician’s prescription, ability in speaking and attending to participate in the study. Data was collected by face to face and group semi-structure deep interviews and analyzed via content analysis method. To support of rigor of data, criteria credibility, confirmability and transferability were used. Results: during data analysis five categories developed: “hope and disability in the face of illness”, “mutual roles of physician”, “role of family” and “administrative centers and organizations”. To perform self-care behaviors, the participations of this study emphasized on pay attention to their own healthy, regarding patients' rights by physician, pay attention to women's health by men, and the role of media especially radio and television. Conclusion: the finding of the study showed that women’s responsibility with osteoporosis for their health is not a factor but it is multifactorial. Increasing life expectancy in patients, attention to patients needs by physician, increasing health promotion programs in the media and enhancing role of family may provide conditions and infrastructure to empowerment women in doing self-care behavior.

Keywords: women, osteoporosis, self-care, content analysis

Procedia PDF Downloads 459

Authors: Eric Jacob Bacon, Chaoyang Jin, Dianning He, Shuaishuai Hu, Lanbo Wang, Han Li, Shouliang Qi

Abstract:

Objective: Refractory epilepsy is a complicated type of epilepsy that can be difficult to diagnose. Recent technological advancements have made resting-state functional magnetic resonance (rsfMRI) a vital technique for studying brain activity. However, there is still much to learn about rsfMRI. Investigating rsfMRI connectivity may aid in the detection of abnormal activities. In this paper, we propose studying the functional connectivity of rsfMRI candidates to diagnose epilepsy. Methods: 45 rsfMRI candidates, comprising 26 with refractory epilepsy and 19 healthy controls, were enrolled in this study. A data-driven approach known as independent component analysis (ICA) was used to achieve our goal. First, rsfMRI data from both patients and healthy controls were analyzed using group ICA. The components that were obtained were then spatially sorted to find and select meaningful ones. A two-sample t-test was also used to identify abnormal networks in patients and healthy controls. Finally, based on the fractional amplitude of low-frequency fluctuations (fALFF), a chi-square statistic test was used to distinguish the network properties of the patient and healthy control groups. Results: The two-sample t-test analysis yielded abnormal in the default mode network, including the left superior temporal lobe and the left supramarginal. The right precuneus was found to be abnormal in the dorsal attention network. In addition, the frontal cortex showed an abnormal cluster in the medial temporal gyrus. In contrast, the temporal cortex showed an abnormal cluster in the right middle temporal gyrus and the right fronto-operculum gyrus. Finally, the chi-square statistic test was significant, producing a p-value of 0.001 for the analysis. Conclusion: This study offers evidence that investigating rsfMRI connectivity provides an excellent diagnosis option for refractory epilepsy.

Keywords: ICA, RSN, refractory epilepsy, rsfMRI

Procedia PDF Downloads 69

Authors: Sunil Kumar, Uday C. Ghoshal

Abstract:

Background and aims: Serotonin (5-hydroxtryptamine, 5-HT) is an important factor in gut function, playing key roles in intestinal peristalsis and secretion, and in sensory signaling in the brain-gut axis. Removal from its sites of action is mediated by a specific protein called the serotonin reuptake transporter (SERT). Polymorphisms in the promoter region of the SERT gene have effects on transcriptional activity, resulting in altered 5-HT reuptake efficiency. Functional polymorphisms may underlie disturbance in gut function in individuals suffering with disorders such as irritable bowel syndrome (IBS). The aim of this study was to assess the potential association between SERT polymorphisms and the diarrhea predominant IBS (D-IBS) phenotype Subjects: A total of 36 northern Indian female patients and 55 female northern Indian healthy controls (HC) were subjected to genotyping. Methods: Leucocyte DNA of all subjects was analyzed by polymerase chain reaction based technologies for SERT polymorphisms, specifically the insertion/deletion polymorphism in the promoter (SERT-P). Statistical analysis was performed to assess association of SERT polymorphism allele with the D-IBS phenotype. Results: The frequency of distribution of SERT-P gene was comparable between female patients with IBS and HC (p = 0.086). However, frequency of SERT-P deletion/deletion genotype was significantly higher in female patients with D-IBS compared to C-IBS and A-IBS [17/19 (89.5%) vs. 4/12 (33.3%) vs. 1/5 (20%), p=0.001, respectively]. The mucosal level of serotonin was higher in D-IBS compared to C-IBS and A-IBS [Median, range (159.26, 98.78–212.1) vs. 110.4, 67.87–143.53 vs. 92.34, 78.8–166.3 pmol/mL, p=0.001, respectively]. The mucosal level of serotonin was higher in female patients with IBS with SERT-P deletion/deletion genotype compared deletion/insertion and insertion/insertion [157.65, 67.87–212.1 vs. 110.4, 78.1–143.32 vs. 100.5, 69.1–132.03 pmol/mL, p=0.001, respectively]. Patients with D-IBS with deletion/deletion genotype more often reported symptoms of abdominal pain, discomfort (p=0.025) and bloating (p=0.039). Symptoms development following lactose ingestion was strongly associated with D-IBS and SERT-P deletion/deletion genotype (p=0.004). Conclusions: Significant association was observed between D-IBS and the SERT-P deletion/deletion genotype, suggesting that the serotonin transporter is a potential candidate gene for D-IBS in women.

Keywords: serotonin, SERT, inflammatory bowel disease, genetic polymorphism

Procedia PDF Downloads 331

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

Procedia PDF Downloads 190

Authors: Hossein Rassi, Marjan Moradi Fard, Masoud Houshmand

Abstract:

Background: Cervical cancer is multistep disease that is thought to result from an interaction between genetic background and environmental factors. Human papillomavirus (HPV) infection is the leading risk factor for cervical intraepithelial neoplasia (CIN) and cervical cancer. In other hand, some of p53 and miRNA polymorphism may plays an important role in carcinogenesis. This study attempts to clarify the relation of p53 genotypes and miR-146a rs2910164 polymorphism in cervical lesions. Method: Forty two archival samples with cervical lesion retired from Khatam hospital and 40 sample from healthy persons used as control group. A simple and rapid method was used to detect the simultaneous amplification of the HPV consensus L1 region and HPV-16,-18, -11, -31, 33 and -35 along with the b-globin gene as an internal control. We use Multiplex PCR for detection of P53 and miR-146a rs2910164 genotypes in our lab. Finally, data analysis was performed using the 7 version of the Epi Info(TM) 2012 software and test chi-square(x2) for trend. Results: Cervix lesions were collected from 42 patients with Squamous metaplasia, cervical intraepithelial neoplasia, and cervical carcinoma. Successful DNA extraction was assessed by PCR amplification of b-actin gene (99bp). According to the results, p53 GG genotype and miR-146a rs2910164 CC genotype was significantly associated with increased risk of cervical lesions in the study population. In this study, we detected 13 HPV 18 from 42 cervical cancer. Conclusion: The connection between several SNP polymorphism and human virus papilloma in rare researches were seen. The reason of these differences in researches' findings can result in different kinds of races and geographic situations and also differences in life grooves in every region. The present study provided preliminary evidence that a p53 GG genotype and miR-146a rs2910164 CC genotype may effect cervical cancer risk in the study population, interacting synergistically with HPV 18 genotype. Our results demonstrate that the testing of p53 codon 72 polymorphism genotypes and miR-146a rs2910164 polymorphism genotypes in combination with HPV18 can serve as major risk factors in the early identification of cervical cancers. Furthermore, the results indicate the possibility of primary prevention of cervical cancer by vaccination against HPV18 in Iran.

Keywords: cervical cancer, HPV18, p53 codon 72 polymorphism, miR-146a rs2910164 polymorphism

Procedia PDF Downloads 455

Authors: Nehal F. Hassib, Rasha M. ElHossini, Inas M. sayed, Maha R. Abouzeid, Nermeen A. Bayoumi, Aida M. Mosaad, Lamia K. Gadallah, Moataz Bellah A. T. Abdelbari, Heba A El-Sayed, Hasnaa Elbendary, Ghada Abdel-Salam, Maha Zaki, Mostafa I. Mostafa, Mohamed S. Abdel-Hamid

Abstract:

Enamel, the outermost layer of the tooth crown, is the hardest dental tissue and serves as a protective barrier. Amelogenesis, the process of enamel formation, is regulated by multiple genes to ensure normal, defect-free enamel. Defective enamel manifests as hypoplasia or as amelogenesis imperfecta (AI), which may occur in isolation or as part of a syndrome. This study presents 29 patients from 18 unrelated families (16 females and 13 males) who exhibited distinctive enamel abnormalities. We conducted thorough clinical examinations and requested laboratory and radiological investigations. Blood samples were collected for molecular analysis, utilizing a targeted panel for known AI variants and whole exome sequencing for unknown variants. Eleven variants linked to enamel anomalies were identified: four genes associated with isolated AI (WDR72, ACP4, SLC24A4, and FAM83H) and seven associated with syndromic forms, including enamel renal syndrome (FAM20A), tricho-dento-osseous syndrome (DLX3), Jalili syndrome (CNNM4), and others linked to neurological and mitochondrial disorders, skeletal dysplasia, and peroxisome disorders. Abnormal oral and dental phenotypes in individuals may indicate serious inherited disorders. Enamel defects have significant implications for aesthetics, function, and patients' psychological well-being. Dental examination, alongside clinical and molecular investigations, is crucial for the accurate diagnosis and prediction of inherited conditions.

Keywords: amelogenesis imperfecta, enamel defect, Enamel renal syndrome, DLX3, Jalili syndrome, WDR72, FAM83H, whole exome sequencing

Procedia PDF Downloads 13

Authors: Sameer Masood, Lucas Chartier

Abstract:

Head injuries are a commonly encountered presentation in emergency departments (ED) and the Choosing Wisely Canada (CWC) campaign was released in June 2015 in an attempt to decrease imaging utilization for patients with minor head injuries. The impact of the CWC campaign on imaging utilization for head injuries has not been explored in the ED setting. In our study, we describe the characteristics of patients with head injuries presenting to a tertiary care academic ED and the impact of the CWC campaign on CT head utilization. This retrospective cohort study used linked databases from the province of Ontario, Canada to assess emergency department visits with a primary diagnosis of head injury made between June 1, 2014 and Aug 31, 2016 at the University Health Network in Toronto, Canada. We examined the number of visits during the study period, the proportion of patients that had a CT head performed before and after the release of the CWC campaign, as well as mode of arrival, and disposition. There were 4,322 qualifying visits at our site during the study period. The median presenting age was 44.12 years (IQR 27.83,67.45), the median GCS was 15 (IQR 15,15) and the majority of patients presenting had intermediate acuity (CTAS 3). Overall, 43.17% of patients arrived via ambulance, 49.24 % of patients received a CT head and 10.46% of patients were admitted. Compared to patients presenting before the CWC campaign release, there was no significant difference in the rate of CT heads after the CWC (50.41% vs 47.68%, P = 0.07). There were also no significant differences between the two groups in mode of arrival (ambulance vs ambulatory) (42.94% vs 43.48%, P = 0.72) or admission rates (9.85% vs 11.26%, P = 0.15). However, more patients belonged to the high acuity groups (CTAS 1 or 2) in the post CWC campaign release group (12.98% vs 8.11% P <0.001). Visits for head injuries make up a significant proportion of total ED visits and approximately half of these patients receive CT imaging in the ED. The CWC campaign did not seem to impact imaging utilization for head injuries in the 14 months following its launch. Further efforts, including local quality improvement initiatives, are likely needed to increase adherence to its recommendation and reduce imaging utilization for head injuries.

Keywords: choosing wisely, emergency department, head injury, quality improvement

Procedia PDF Downloads 219

Authors: Mircan Kaya

Abstract:

A multi-disciplinary approach is required in any intervention project for historical monuments. Due to the complexity of their geometry, the variable and unpredictable characteristics of original materials used in their creation, heritage structures are peculiar. Their histories are often complex, and they require correct diagnoses to decide on the techniques of intervention. This approach should not only combine technical aspects but also historical research that may help discover phenomena involving structural issues, and acquire a knowledge of the structure on its concept, method of construction, previous interventions, process of damage, and its current state. In addition to the traditional techniques like bed joint reinforcement, the repairing, strengthening and restoration of historical buildings may require several other modern methods which may be described as innovative techniques like pre-stressing and post-tensioning, use of shape memory alloy devices and shock transmission units, shoring, drilling, and the use of stainless steel or titanium. Regardless of the method to be incorporated in the strengthening process, which can be traditional or innovative, it is crucial to recognize that structural strengthening is the process of upgrading the structural system of the existing building with the aim of improving its performance under existing and additional loads like seismic loads. This process is much more complex than dealing with a new construction, owing to the fact that there are several unknown factors associated with the structural system. Material properties, load paths, previous interventions, existing reinforcement are especially important matters to be considered. There are several examples of seismic strengthening with traditional and innovative techniques around the world, which will be discussed in this paper in detail, including their pros and cons. Ultimately, however, the main idea underlying the philosophy of a successful intervention with the most appropriate techniques of strengthening a historic monument should be decided by a proper assessment of the specific needs of the building.

Keywords: bed joint reinforcement, historical monuments, post-tensioning, pre-stressing, seismic strengthening, shape memory alloy devices, shock transmitters, tie rods

Procedia PDF Downloads 261

Authors: Wisit Wichitkosoom

Abstract:

Objective:The majority of the hisk-risk patients (ST-elevation myocardial infarction (STEMI), Acute cerebrovascular accident, Sepsis, Acute Traumatic patient ) are admitted to district or lacal hospitals (average 1-1.30 hr. from Udonthani general hospital, Northeastern province, Thailand) without proper facilities. The referral system was support to early care and early management at pre-hospital stage and prepare for the patient data to higher hospital. This study assessed the reduction in treatment delay achieved by pre-hospital diagnosis and referral directly to Udonthani General Hospital. Methods and results: Four district or local hospitals without proper facilities for treatment the very high-risk patient were serving the study region. Pre-hospital diagnoses were established with the simple technology such as LINE, SMS, telephone and Fax for concept of LEAN process and then the telemedicine, by ambulance monitoring (ECG, SpO2, BT, BP) in both real time and snapshot mode was administrated during the period of transfer for safety transfer concept (inter-hospital stage). The standard treatment for patients with STEMI, Intracranial injury and acute cerebrovascular accident were done. From 1 October 2012 to 30 September 2013, the 892 high-risk patients transported by ambulance and transferred to Udonthani general hospital were registered. Patients with STEMI diagnosed pre-hospitally and referred directly to the Udonthani general hospital with telemedicine closed monitor (n=248). The mortality rate decreased from 11.69% in 2011 to 6.92 in 2012. The 34 patients were arrested on the way and successful to CPR during transfer with the telemedicine consultation were 79.41%. Conclusion: The proper innovation could apply for health care system. The very high-risk patients must had the closed monitoring with two-way communication for the “safety transfer period”. It could modified to another high-risk group too.

Keywords: safety transfer, telemedicine, critical patients, medical and health sciences

Procedia PDF Downloads 302

Authors: Umar Rehman, Holly Roy, K. T. Tsang, D. S. Jeyaretna, W Singleton, B. Fisher, P. A. Glew, J. Greig, Peter C. Whitfield

Abstract:

Introduction: A brain abscess is a life-threatening condition, carrying significant mortality. It requires rapid identification and treatment. Management involves a combination of antibiotics and surgery. The aim of the current study was to identify common bacteria responsible for cerebral abscesses as well as the long term functional and neurological outcomes of patients following treatment in a retrospective series at a single UK neurosurgical centre. Methodology: We analysed patients that had received a diagnosis of 'cerebral abscess' or 'subdural empyema' between June 2002 and June 2018. This was done in the form of a retrospective review. The search resulted in a total of 180 patients; with 37 patients being excluded (spinal abscess, below 18 or non-abscess related admissions). Data were collected from medical case notes including information about demographics, comorbidities, immunosuppression, presentation, size/location of lesions, pathogens, treatment, and outcomes. Results: In total, we analysed 143 patients between the ages of 18-90. Focal neurological deficit and headaches were seen in 84% and 68% of patients respectively. 108 positive brain cultures were seen; with the largest proportion, 59.2% being gram-positive cocci, with strep intermedius being the most common pathogen identified in 13.9% of patients. Of the patients with positive blood cultures (n=11), 72.7% showed the same organism both in the blood and on the brain cultures. Long term outcomes (n=72) revealed that 48% of patients seizure-free without requiring anti-epileptics, 51.3% of patients had full recovery of their neurological symptoms. There was a mortality rate of 13.9% in the series. Conclusion: In conclusion, the largest bacterial cause of abscess within our population was due to gram-positive cocci. The majority of the patient demonstrated full neurological recovery with close to half of patients not requiring anti-epileptics following discharge.

Keywords: bacteria, cerebral abscess, long term outcome, neurological deficit

Procedia PDF Downloads 116

Authors: Yu Yoshihara, Chika Tada, Moe Takada, Nyam-Osor Purevdorj, Khorolmaa Chimedtseren, Yutaka Nakai

Abstract:

Water pollution from animal waste and its influence on grazing animals is a current concern regarding Mongolian grazing lands. We allocated 32 free-grazing lambs to four groups and provided each with water from a different source (upper stream, lower stream, well, and pond) for 49 days. We recorded the amount of water consumed by the lambs, as well as their body weight, behavior, white blood cell count, acute phase (haptoglobin) protein level, and fecal condition. We measured the chemical and biological qualities of the four types of water, and we detected enteropathogenic and enterohemorrhagic Escherichia coli in fecal samples by using a genetic approach. Pond water contained high levels of nitrogen and minerals, and well water contained high levels of bacteria. The odor concentration index decreased in order from pond water to upper stream, lower stream, and well. On day 15 of the experiment, the following parameters were the highest in lambs drinking water from the following sources: water intake (pond or lower stream), body weight gain (pond), WBC count (lower stream), haptoglobin concentration (well), and enteropathogenic E. coli infection rate (lower stream). Lambs that drank well water spent more time lying down and less time grazing than the others, and lambs that drank pond water spent more time standing and less time lying down. Lambs given upper or lower stream water exhibited more severe diarrhea on day 15 of the experiment than before the experiment. Mongolian sheep seemed to adapt to chemically contaminated water: their productivity benefited the most from pond water, likely owing to its rich mineral content. Lambs that drank lower stream water showed increases in enteropathogenic E. coli infection, clinical diarrhea, and WBC count. Lambs that drank well water, which was bacteriologically contaminated, had increased serum acute phase protein levels and poor physical condition; they were thus at increased risk of negative health and production effects.

Keywords: DNA, Escherichia coli, fecal sample, lower stream, well water

Procedia PDF Downloads 467

Authors: Mustafa Al Sukar, Azzam Sleit, Abdullatif Abu-Dalhoum, Bassam Al-Kasasbeh

Abstract:

Use and abuse of drugs by teens is very common and can have dangerous consequences. The drugs contribute to physical and sexual aggression such as assault or rape. Some teenagers regularly use drugs to compensate for depression, anxiety or a lack of positive social skills. Teen resort to smoking should not be minimized because it can be "gateway drugs" for other drugs (marijuana, cocaine, hallucinogens, inhalants, and heroin). The combination of teenagers' curiosity, risk taking behavior, and social pressure make it very difficult to say no. This leads most teenagers to the questions: "Will it hurt to try once?" Nowadays, technological advances are changing our lives very rapidly and adding a lot of technologies that help us to track the risk of drug abuse such as smart phones, Wireless Sensor Networks (WSNs), Internet of Things (IoT), etc. This technique may help us to early discovery of drug abuse in order to prevent an aggravation of the influence of drugs on the abuser. In this paper, we have developed a Decision Support System (DSS) for detecting the drug abuse using Artificial Neural Network (ANN); we used a Multilayer Perceptron (MLP) feed-forward neural network in developing the system. The input layer includes 50 variables while the output layer contains one neuron which indicates whether the person is a drug addict. An iterative process is used to determine the number of hidden layers and the number of neurons in each one. We used multiple experiment models that have been completed with Log-Sigmoid transfer function. Particularly, 10-fold cross validation schemes are used to access the generalization of the proposed system. The experiment results have obtained 98.42% classification accuracy for correct diagnosis in our system. The data had been taken from 184 cases in Jordan according to a set of questions compiled from Specialists, and data have been obtained through the families of drug abusers.

Keywords: drug addiction, artificial neural networks, multilayer perceptron (MLP), decision support system

Procedia PDF Downloads 295

Authors: Getenet Shumet Birhan, Biruk Lelisa Eticha, Gizachew Tilahun Belete, Fisseha Admassu Ayele

Abstract:

Context: Glaucoma is a significant public health concern globally, being the second leading cause of blindness. This study focuses on adult glaucoma patients in Ethiopia, specifically at the University of Gondar. Research Aim: The main objective is to assess the prevalence of visual impairment and identify associated factors among adult glaucoma patients at the University of Gondar. Methodology: The study used an institution-based cross-sectional design, collecting data from 423 glaucoma patients through interviews and medical chart reviews. Descriptive statistics and logistic regression were employed for analysis. Findings: The study found a high prevalence of visual impairment (77.6%) among adult glaucoma patients, with factors such as female sex, rural residence, glaucoma type, disease stage, and duration of diagnosis significantly associated with visual impairment. Theoretical Importance: This research adds valuable insights into the prevalence and determinants of visual impairment among glaucoma patients in Ethiopia, contributing to the existing literature on eye health in low-resource settings. Data Collection: Data were collected through face-to-face interviews and medical chart reviews at the University of Gondar, utilizing a structured questionnaire. Analysis Procedures: Descriptive statistics, frequency analysis, and binary logistic regression were employed to analyze the data and identify factors associated with visual impairment in adult glaucoma patients. Question Addressed: The study sought to answer the question of the prevalence of visual impairment and its associated factors among adult glaucoma patients at the University of Gondar in Northwest Ethiopia. Conclusion: The research concludes that visual impairment is significantly high among adult glaucoma patients in this setting, with several factors playing a role in its occurrence.

Keywords: visual impairment, glaucoma, Ethiopia, Gondar

Procedia PDF Downloads 67

Authors: Mustafa Metin Donma

Abstract:

Obesity increases the risk of elevated blood pressure, which is a metabolic syndrome (MetS) component. Waist circumference (WC) is accepted as an indispensable parameter for the evaluation of these health problems. The close relationship of height with blood pressure values revealed the necessity of including height in tense indices. The association of tense indices with WC has also become an increasingly important topic. The purpose of this study was to develop a tense index that could contribute to differential diagnosis of MetS more than the indices previously introduced. One hundred and ninety-four children, aged 06-11 years, were considered to constitute four groups. The study was performed on normal weight (Group 1), overweight+obese (Group 2), morbid obese [without (Group 3) and with (Group 4) MetS findings] children. Children were included in the groups according to the recommendations of World Health Organization based on age- and gender dependent body mass index percentiles. For MetS group, MetS components well-established before were considered. Anthropometric measurements, as well as blood pressure values were taken. Tense indices were computed. The formula for the first tense index was (SP+DP)/2. The second index was Advanced Donma Tense Index (ADTI). The formula for this index was [(SP+DP)/2] * Height. Statistical calculations were performed. 0.05 was accepted as the p value indicating statistical significance. There were no statistically significant differences between the groups for pulse pressure, systolic-to-diastolic pressure ratio and tense index. Increasing values were observed from Group 1 to Group 4 in terms of mean arterial blood pressure and advanced Donma tense index (ADTI), which was highly correlated with WC in all groups except Group 1. Both tense index and ADTI exhibited significant correlations with WC in Group 3. However, in Group 4, ADTI, which includes height parameter in the equation, was unique in establishing a strong correlation with WC. In conclusion, ADTI was suggested as a tense index while investigating children with MetS.

Keywords: blood pressure, child, height, metabolic syndrome, waist circumference

Procedia PDF Downloads 51

Authors: Fatimah Alhomaid

Abstract:

The present study was planned to investigate the role of molecular changes and immunohistochemical in early detection of colon cancer in Saudi patients. Our results were carried out on 48 patients colon cancer. We obtained our data from laboratory in King Khalid university hospital. The specimens were taken (48) patients with colon cancer 34 male and 14 female and 2 control. The average age of varied from 37-85 years. The tumor was diagnosed as I in tow patients (male and female) and grade 2 in 42 patients (29 male and 13 female) while the grade 3 in 4 patients (all males). The specimens were processed for haematoxylin and eosin staining , immunohistochemical technique and flow cytometry analysis. Our study noted that most patients had adenocarcinoma which characterized by presence of signet-ring cells were very clear in advanced patients of adenocarcinoma. Our sections in adenocarcinoma in grade 2 and stage 3 had an increase in signet ring cells,an increase in the acini of glands and an increase in number of lymphocytes which spread to the muscularis layer. With advancing the disease, there were haemorge in blood and increase in lymphocytes and increase number of nuclei in the tubular glands. Our study was carried on 48 patients, immunohistochemical diagnosis (CK20,PCNA,P53) and the analysis of DNA content by flow cytometry technique. Our study indicated that the presence of correlation between the immunohistochemical analysis for P53 and the grades. The reaction of P53 appeared as strong in nucleus in grades &stage 3 and appeared in other sections as dark brown pigment. Our study indicated that the absence of correlation between the immunohistochemical analysis for pcan and the grades. In our sections, there were strong reactions in the more 80% of nuclei in grade 1& stage 2. Our study indicated that the presence of correlation between the immunohistochemical analysis for CK20 and the grades. Our results indicated the presence of positive reaction in cytoplasm varied from weak to moderate in grade 3 & stage 4. Concerning the Flow cytometry technique our results indicated that the presence of correlation between the DNA and different stages of colon cancer.

Keywords: DNA-CK20, PCNA, P53, colon cancer

Procedia PDF Downloads 355

Authors: Sushma Tejwani, Shoruba Dinakaran, Kushal Kacha, K. Bhujang Shetty

Abstract:

Introduction and aim: It is not unusual to find patients with glaucomatous damage and normal intraocular pressure, and to label a patient as Normal tension glaucoma (NTG) majority of clinicians depend on office Intraocular pressures (IOP) recordings; hence, the concern is that whether we are missing the late night or early morning spikes in this group of patients. Also, ischemia to the optic nerve is one of the presumed causes of damage in these patients, however demonstrating the same has been a challenge. The aim of this study was to evaluate IOP variations and patterns in a series of patients with open angles, glaucomatous discs or fields but normal office IOP, and in addition to identify ischemic factors for true NTG patients. Materials & Methods: This was an observational cross- sectional study from a tertiary care centre. The patients that underwent full day DVT from Jan 2012 to April 2014 were studied. All patients underwent IOP measurement on Goldmann applanation tonometry every 3 hours for 24 hours along with a recording of the blood pressure (BP). Further patients with normal IOP throughout the 24- hour period were evaluated with a cardiologist for echocardiography and carotid Doppler. Results: There were 47 patients and a maximum number of patients studied was in the age group of 50-70 years. A biphasic IOP peak was noted for almost all the patients. Out of the 47 patients, 2 were excluded from analysis as they were on treatment.20 patients (42%) were diagnosed on DVT to have an IOP spike and were then diagnosed as open angle glaucoma and another 25 (55%) were diagnosed to have normal tension glaucoma and were subsequently advised a carotid Doppler and a cardiologists consult. Another interesting finding was that 9 patients had a nocturnal dip in their BP and 3 were found to have carotid artery stenosis. Conclusion: A continuous 24-hour monitoring of the IOP and BP is a very useful albeit mildly cumbersome tool which provides a wealth of information in cases of glaucoma presenting with normal office pressures. It is of great value in differentiating between normal tension glaucoma patients & open angle glaucoma patients. It also helps in timely diagnosis & possible intervention due to referral to a cardiologist in cases of carotid artery stenosis.

Keywords: carotid artery disease in NTG, diurnal variation of IOP, ischemia in glaucoma, normal tension glaucoma

Procedia PDF Downloads 278

Authors: Eisha Vienna M. Fernandez, Cristan Q. Cabanilla, Hiyasmin Lim, John Donnie A. Ramos

Abstract:

Allergy is a multifactorial disease affecting a significant proportion of the population. It is developed through the interaction of allergens and the presence of certain polymorphisms in various susceptibility genes. In this study, the correlation of the 105A/C single nucleotide polymorphism (SNP) of the IL-18 gene and house dust mite-specific IgE among Filipino allergic and non-allergic population was investigated. Atopic status was defined by serum total IgE concentration of ≥100 IU/mL, while house dust mite allergy was defined by specific IgE value ≥ +1SD of IgE of nonatopic participants. Two hundred twenty match-paired Filipino cases and controls aged 6-60 were the subjects of this investigation. The level of total IgE and Specific IgE were measured using Enzyme-Linked Immunosorbent Assay (ELISA) while Polymerase Chain Reaction – Restriction Fragment Length Polymorphism (PCR-RFLP) analysis was used in the SNP detection. Sensitization profiles of the allergic patients revealed that 97.3% were sensitized to Blomia tropicalis, 40.0% to Dermatophagoides farinae, and 29.1% to Dermatophagoides pteronyssinus. Multiple sensitization to HDMs was also observed among the 47.27% of the atopic participants. Any of the allergy classes of the atopic triad were exhibited by the cases (allergic asthma: 48.18%; allergic rhinitis: 62.73%; atopic dermatitis: 19.09%), and two or all of these atopic states are concurrently occurring in 26.36% of the cases. A greater proportion of the atopic participants with allergic asthma and allergic rhinitis were sensitized to D. farinae, and D. pteronyssinus, while more of those with atopic dermatitis were sensitized to D. pteronyssinus than D. farinae. Results show that there is overrepresentation of the allele “A” of the 105A/C IL-18 gene SNP in both cases and control groups of the population. The genotype that predominate the population is the heterozygous “AC”, followed by the homozygous wild “AA”, and the homozygous variant “CC” being the least. The study confirmed a positive association between serum specific IgE against B. tropicalis and D. pteronyssinus and the allele “C” (Bt P=0.021, Dp P=0.027) and “AC” (Bt P=0.003, Dp P=0.026) genotype. Findings also revealed that the genotypes “AA” (OR:1.217; 95% CI: 0.701-2.113) and “CC” (OR, 3.5; 95% CI: 0.727-16.849) increase the risk of developing allergy. This indicates that the 105A/C IL-18 gene SNP is a candidate genetic marker for HDM allergy among Filipino patients.

Keywords: house dust mite allergy, interleukin-18 (IL-18), single nucleotide polymorphism,

Procedia PDF Downloads 455

Authors: Anyimc, C. J. Aneke, J. O. Orji, O. Nworie, U. C. C. Egbule

Abstract:

The microbial examination and antimicrobial susceptibility profile of microorganism isolated from the salt mining site in Ebonyi state were evaluated in the present study using a standard microbiological technique. A total of 300 samples were randomly collected in three sample groups (A, B, and C) of 100 each. Isolation, Identification and characterization of organization present on the soil samples were determined by culturing, gram-staining and biochemical technique. The result showed the following organisms were isolated with their frequency as follow: Bacillus species (37.3%) and Staphylococcus species(23.5%) had the highest frequency in the whole Sample group A and B while Klebsiella specie (15.7%), Pseudomonas species(13.7%), and Erwinia species (9.8%) had the least. Rhizopus species (42.0%) and Aspergillus species (26.0%) were the highest fungi isolated, followed by Penicillum species (20.0%) while Mucor species (4.0%), and Fusarium species (8.0%) recorded the least. Sample group C showed high microbial population of all the microbial isolates when compared to sample group A and B. Disc diffusion method was used to determine the susceptibility of isolated bacteria to various antibiotics (oxfloxacin, pefloxacin, ciprorex, augumentin, gentamycin, ciproflox, septrin, ampicillin), while agar well diffusion method was used to determine the susceptibility of isolated fungi to some antifungal drugs (metronidazole, ketoconazole, itraconazole fluconazole). The antibacterial activity of the antibiotics used showed that ciproflux has the best inhibitory effect on all the test bacteria. Ketoconazole showed the highest inhibitory effect on the fungal isolates, followed by itraconazole, while metronidazole and fluconazole showed the least inhibitory effect on the entire test fungal isolates. Hence, the multiple drug resistance of most isolates to appropriate drugs of choice are of great public health concern and cells for periodic monitoring of antibiograms to detect possible changing patterns. Microbes isolated in the salt mining site can also be used as a source of gene(s) that can increase salt tolerance in different crop species through genetic engineering.

Keywords: microorganisms, antibacterial, antifungal, resistance, salt mining site, Ebonyi State

Procedia PDF Downloads 316

Authors: Adèle Hotte-Meunier, Lisa Sarraf, Alan Bougeard, Félicia Bernier, Chloé Voyer, Jiaxuan Deng, Stéphanie El Asmar, Alina Stamate, Marc Corbière, Patrizia Villotti, Geneviève Sauvé

Abstract:

Background: Attention-Deficit/Hyperactivity Disorder (ADHD) is characterized by a persistent pattern of inattention and/or hyperactivity-impulsivity that interferes with psychosocial, educational and occupational functioning. Although often conceptualized as a developmental disorder of childhood, 65% of children with ADHD continue to meet full or partial diagnostic criteria for ADHD in adulthood and an estimated 4% of the workforce has a diagnosis of ADHD. Methods: A systematic review was conducted to understand the experiences of people living with ADHD in the workplace. Articles reporting employment outcomes for people living with were identified by a search in eight databases on four separate occasions from June 27, 2022, to June 21, 2023. A risk of bias assessment for each study was performed using the Mixed Methods Appraisal Tool (MMAT). Results: A total of 79 studies were included in this systematic review (nADHD: 68, 216). Results were synthesized into three broad overarching categories: challenges, strengths and adaptations at work. Further, nine themes were included: ADHD symptoms at work, workplace performance, job satisfaction, interpersonal relationships at work, maladaptive work thoughts and behaviors, personal strengths, embracing ADHD, person-environment fit and accommodations and support. Sex differences were highlighted as a tenth subtheme. ADHD confers both strengths and limitations related to employment. Discussion: Workers with ADHD can not only adapt but thrive in employment with the right person-environment fit, accommodations and support. Many challenges related to ADHD can be managed or remodeled as assets in a workplace environment that fosters acceptance, flexible working practices and openness to neurodiversity.

Keywords: neurodivergence, occupation, workplace, person-environment fit

Procedia PDF Downloads 89

Authors: Chiara Della Rocca, Gavino Piras, Andrea Berti, Alessandro Mameli

Abstract:

DNA identification of human skeletal remains plays a valuable role in the forensic field, especially in missing persons and mass disaster investigations. Hard tissues, such as bones and teeth, represent a very common kind of samples analyzed in forensic laboratories because they are often the only biological materials remaining. However, the major limitation of using these compact samples relies on the extremely time–consuming and labor–intensive treatment of grinding them into powder before proceeding with the conventional DNA purification and extraction step. In this context, a DNA extraction assay called the TBone Ex kit (DNA Chip Research Inc.) was developed to digest bone chips without powdering. Here, we simultaneously analyzed bone and tooth samples that arrived at our police laboratory and belonged to 15 different forensic casework that occurred in Sardinia (Italy). A total of 27 samples were recovered from different scenarios and were exposed to extreme environmental factors, including sunlight, seawater, soil, fauna, vegetation, and high temperature and humidity. The TBone Ex kit was used prior to the EZ2 DNA extraction kit on the EZ2 Connect Fx instrument (Qiagen), and high-quality autosomal and Y-chromosome STRs profiles were obtained for the 80% of the caseworks in an extremely short time frame. This study provides additional support for the use of the TBone Ex kit for digesting bone fragments/whole teeth as an effective alternative to pulverization protocols. We empirically demonstrated the effectiveness of the kit in processing multiple bone samples simultaneously, largely simplifying the DNA extraction procedure and the good yield of recovered DNA for downstream genetic typing in highly compromised forensic real specimens. In conclusion, this study turns out to be extremely useful for forensic laboratories, to which the various actors of the criminal justice system – such as potential jury members, judges, defense attorneys, and prosecutors – required immediate feedback.

Keywords: DNA, skeletal remains, bones, tbone ex kit, extreme conditions

Procedia PDF Downloads 40

Authors: B. McGovern, J. F. Luck, A. Gade, I. V. Lake, D. O’Connell, H. C. Cutcliffe, K. P. Shah, E. E. Ginalis, C. M. Lambert, N. Christian, J. R. Kait, A. W. Yu, C. P. Eckersley, C. R. Bass

Abstract:

Mild traumatic brain injury (mTBI) in the form of post-concussive injuries and attention deficit / hyperactivity disorder (ADHD) share similar cognitive impairments, including impaired working memory and executive function. The memory-guided oculomotor task separates working memory and inhibitory components to provide further information on the nature of these deficits in each pathology. Eleven subjects with ADHD, fifteen control subjects, and ten subjects with recent concussive injury were matched on age, gender, and education (all high school-age males). Eye movements were recorded during memory-guided oculomotor tasks with varying delays using EyeLink 1000 (SR Research). The percentage of premature saccades and the latency of correct response are the analyzed measures for response inhibition and working memory, respectively. No significant differences were found in latencies between controls subjects and subjects with ADHD or post-concussive injuries, in accordance with previous studies. Subjects with ADHD and post-concussive injuries both demonstrated a trend of increased percentages of premature saccades compared to control subjects in the same oculomotor task. This trend reached statistical significance between the post-concussive and control groups (p < 0.05). These findings support the primary nature of the executive function deficits in response inhibition in ADHD and mTBI. The interpretation of results is limited by the small sample size and the exploratory nature of the study. Further investigation into oculomotor performance differences in mTBI and ADHD may help in differentiating these pathologies in consequent diagnoses and provide insight into the interaction of these deficits in mTBI.

Keywords: attention deficit / hyperactivity disorder (ADHD), concussion, diagnosis, oculomotor, pediatrics

Procedia PDF Downloads 297

Authors: Kathryn L. Duncan, Charles A. Kuntz, James O. Simcock

Abstract:

A surgical approach to the cranium for treatment of frontal lobe and olfactory bulb neoplasia in dogs is described in this report, which provided excellent access for visualisation and removal of gross neoplastic tissue. An 8-year-old spayed female Shih Tzu crossbreed dog (dog 1) and a 13-year-old neutered male Miniature Fox Terrier (dog 2) were evaluated for removal of neoplasms involving both the frontal lobe and olfactory bulb. Both dogs presented with abnormal neurological clinical signs, decreased menace responses, and behavioural changes. Additionally, dog 2 presented with compulsive circling and generalized tonic-clonic seizure activity. Computed tomography was performed in both dogs, and MRI was also performed in dog 1. Imaging was consistent with frontal lobe and olfactory bulb neoplasia. A transorbital frontal bone craniectomy, with orbital ligament desmotomy and ventrolateral retraction of the globe, was performed in both cases without complication. Dog 1 had a focal area of lysis in the frontal bone adjacent to the neoplasm in the frontal lobe. The presence of the bone defect provided part of the impetus for this approach, as it would permit resection of the lytic bone. In addition, the neoplasms would be surgically accessible without encountering interposed brain parenchyma, reducing the risk of iatrogenic injury. Both dogs were discharged from the hospital within 72 hours post-operatively, both with normal mentation. Case 1 had a histopathologic diagnosis of malignant anaplastic neoplasm. The tumour recurred 101d postoperatively, and the patient was euthanized. Case 2 was diagnosed with a meningioma and was neurologically normal at 294d postoperatively. This transorbital surgical approach allowed successful removal of the intracranial frontal lobe and olfactory bulb neoplasms in 2 dogs. This approach should be considered for dogs with lateralized frontal lobe and olfactory bulb neoplasms that are closely associated with the suborbital region of the frontal bone.

Keywords: neurosurgery, small animal surgery, surgical oncology, veterinary neurology

Procedia PDF Downloads 148

Authors: Okan Cakir, Okan Tatli

Abstract:

Acute motor and sensory axonal neuropathy (AMSAN) syndrome usually occurs following a postviral infection in two to four weeks and is a polyneuropathy characterized by axonal and sensorial degeneration as a rare variant of Gullian-Barre syndrome. In our case, we wanted to mention that a rare case of AMSAN Syndrome due to prior surgery. A 61-year-old male case admitted to emergency department with complaints of weakness in feet, numbness and incapability to walk. In his history, it was learned that endovascular aneurysm repair (EVAR) had applied for abdominal aort aneurysm two weeks ago before admission, his complaints had been for a couple of days increasingly and bilaterally, and there had been no infection disease history for four weeks. In physical examination, general status was good, vital signs were stable, and there was a mild paresis in dorsal flexion of feet in bilaterally lower extremities. No nuchal rigidity was determined. Other system examinations were normal. Urea:52 mg/dL (normal range: 15-44 mg/dL), creatinine: 1,05 mg/dL (normal range: 0,81-1,4 mg/dL), potassium: 3,68 mmol/L (normal range: 3,5-5,5 mmol/L), glycaemia: 142 mg/dL, calcium: 9,71 mg/dL (normal range: 8,5-10,5 mg/dL), erythrocyte sedimentation rate (ESR): 74 mm/h (normal range: 0-15 mm/h) were determined in biochemical tests. The case was consulted to neurology department and hospitalized. In performing electromyography, it was reported as a bilateral significant axonal degeneration with sensory-motor polyneuropathy. Normal ranges of glycaemia and protein levels were detected in lumbal punction. Viral markers and bucella, toxoplasma, and rubella markers were in normal range. Intravenous immunoglobulin (IVIG) was applied as a treatment, physical treatment programme was planned and the case discharged from neurology department. In our case, we mentioned that it should be considered polyneuropathy as an alternative diagnosis in cases admitting symptoms like weakness and numbness had a history of prior surgery.

Keywords: AMSAN Syndrome, emergency department, prior surgery, weakness

Procedia PDF Downloads 335