Search results for: autism disease
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 4051

Search results for: autism disease

3571 Evaluation of Coagulation State in Patients with End Stage Renal Disease (ESRD) by Thromboelastogram (TEG)

Authors: Mohammad Javad Esmaeili

Abstract:

Background: Coagulopathy is one of the complications with end stage renal disease with high prevalence in the world. Thromboelastogram is adynamic test for evaluation of coagulopathy and we have compared our patient's coagulation profiles with the results of TEG. Material and methods: In this study 50 patients with ESRD who were on regular hemodialysis for at least 6 months was selected with simple sampling and their coagulation profile was done with blood sampling and also TEG was done for every patient. Data were analyzed with SPSS and P<0.05 consider significant. Results: Protein s, Protein c and Antithrombin III deficiency was detected in 32%, 16% and 20% of patients and activated protein c resistance was abnormal in 2% of patients. In TEG, R time in 49% and K in 22/5% of patients was lower than normal and a-angle in 26% and maximum amplitude in 36% of patients was upper than normal (Hypercoagulable state). PS with R and ATIII with K have correlation. Conclusion: R time and K in TEG can be a suitable screening test in patients with suspicious to PS and ATIII deficiency.

Keywords: thromboelastography, chronic kidney disease, Coagulating disorder, hemodialysis

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3570 Language Skills in the Emergent Literacy of Spanish-Speaking Children with Autism Spectrum Disorders

Authors: Adriana Salgado, Sandra Castaneda, Ivan Perez

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Learning to read and write is a complex process involving several cognitive skills, contextual, and cultural environments. The basis of this development is linguistic skills, such as the ability to name and understand vocabulary, retell a story, phonological awareness, letter knowledge, among others. In children with autism spectrum disorder (ASD), one of the main concerns is related to language disorders. Nevertheless, most of the children with ASD are able to decode written information but have difficulties in reading comprehension. The research of these processes in the Spanish-speaking population is limited. However, the increasing prevalence of this diagnosis (1 in 115 children) in Mexico has implications at different levels. Educational research is an important area of interest in ASD children, such as emergent literacy. Reading and writing expand the possibilities of academic, cultural, and social information access. Taking this information into account, the objective of this research was to identify the relationship between language skills, alphabet knowledge, phonological awareness, and early reading and writing in ASD Spanish-speaking children. The method used for this research was based on tasks that were selected, adapted and in some cases designed to measure initial reading and writing, as well as language skills (naming, receptive vocabulary, and narrative skills), phonological awareness (similar phonological word pairs, beginning sound awareness and spelling) and letter knowledge, in a sample of 45 children (38 boys and 7 girls) with prior diagnosis of ASD. Descriptive analyses, as well as bivariate correlations, cluster analysis, and canonical correspondence, were obtained for the data results. Results showed that variability was large; however, it was possible to characterize the sample in low, medium, and high score groups regarding children performance. The low score group (46.7% of the sample), had a null or deficient performance in language skills and phonological awareness, some could identify up to five letters of the alphabet, showed no early reading skills but they could scribble. The middle score group was characterized by a highly variable performance in different tasks, with better language skills in receptive and naming vocabulary, some narrative, letter knowledge, and phonological awareness (beginning sound awareness) skills. The high score group, (24.4% of the sample) had the best performance in language skills in relation to the sample data, as well as in the rest of the measured skills. Finally, scores were canonically correlated between naming, receptive vocabulary, narrative, phonological awareness, letter knowledge and initial learning of reading and writing skills for the high score group and letter knowledge, naming and receptive vocabulary for the lower score group, which is consistent with previous research in typical and ASD children. In conclusion, the obtained data is consistent with previous studies. Despite large variability, it was possible to identify performance profiles and relations based on linguistic, phonological awareness, and letter knowledge skills. These skills were predictor variables of the initial development of reading and writing. The above has implications for a future program and strategies development that may benefit the acquisition of reading and writing in ASD children.

Keywords: autism, autism spectrum disorders, early literacy, emergent literacy

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3569 Challenging Weak Central Coherence: An Exploration of Neurological Evidence from Visual Processing and Linguistic Studies in Autism Spectrum Disorder

Authors: Jessica Scher Lisa, Eric Shyman

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Autism spectrum disorder (ASD) is a neuro-developmental disorder that is characterized by persistent deficits in social communication and social interaction (i.e. deficits in social-emotional reciprocity, nonverbal communicative behaviors, and establishing/maintaining social relationships), as well as by the presence of repetitive behaviors and perseverative areas of interest (i.e. stereotyped or receptive motor movements, use of objects, or speech, rigidity, restricted interests, and hypo or hyperactivity to sensory input or unusual interest in sensory aspects of the environment). Additionally, diagnoses of ASD require the presentation of symptoms in the early developmental period, marked impairments in adaptive functioning, and a lack of explanation by general intellectual impairment or global developmental delay (although these conditions may be co-occurring). Over the past several decades, many theories have been developed in an effort to explain the root cause of ASD in terms of atypical central cognitive processes. The field of neuroscience is increasingly finding structural and functional differences between autistic and neurotypical individuals using neuro-imaging technology. One main area this research has focused upon is in visuospatial processing, with specific attention to the notion of ‘weak central coherence’ (WCC). This paper offers an analysis of findings from selected studies in order to explore research that challenges the ‘deficit’ characterization of a weak central coherence theory as opposed to a ‘superiority’ characterization of strong local coherence. The weak central coherence theory has long been both supported and refuted in the ASD literature and has most recently been increasingly challenged by advances in neuroscience. The selected studies lend evidence to the notion of amplified localized perception rather than deficient global perception. In other words, WCC may represent superiority in ‘local processing’ rather than a deficit in global processing. Additionally, the right hemisphere and the specific area of the extrastriate appear to be key in both the visual and lexicosemantic process. Overactivity in the striate region seems to suggest inaccuracy in semantic language, which lends itself to support for the link between the striate region and the atypical organization of the lexicosemantic system in ASD.

Keywords: autism spectrum disorder, neurology, visual processing, weak coherence

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3568 Dimethyl fumarate Alleviates Valproic Acid-Induced Autism in Wistar Rats via Activating NRF-2 and Inhibiting NF-κB Pathways

Authors: Sandy Elsayed, Aya Mohamed, Noha Nassar

Abstract:

Introduction: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social deficits and repetitive behavior. Multiple studies suggest that oxidative stress and neuroinflammation are key factors in the etiology of ASD and often associated with worsening of ASD-related behaviors. Nuclear factor erythroid 2-related factor 2 (NRF-2) is a transcription factor that promotes expression of antioxidant response element genes in oxidative stress. In ASD subjects, decreased expression of NRF-2 in frontal cortex shifted the redox homeostasis towards oxidative stress, and resulted in inflammation evidenced by elevation of nuclear factor kappa B (NF-κB) transcriptional activity. Dimethyl fumarate (DMF) is a NRF-2 activator that is used in the treatment of psoriasis and multiple sclerosis. It participates in the transcriptional control of inflammatory factors via inhibition of NF-κB and its downstream targets. This study aimed to investigate the role of DMF in alleviating the cognitive impairments and behavior deficits associated with ASD through mitigation of oxidative stress and inflammation in prenatal valproic acid (VPA) rat model of autism. Methods: Pregnant female Wistar rats received a single intraperitoneal injection of VPA (600 mg/kg) to induce autistic-like-behavioral and neurobiological alterations in their offspring. Chronic oral gavage of DMF (150mg/kg/day) started from postnatal day (PND) 24 till PND62 (39 days). Prenatal VPA exposure elicited autistic behaviors including decreased social interaction and stereotyped behavior. Social interaction was evaluated using three-chamber sociability test and calculation of sociability index (SI), while stereotyped repetitive behavior and anxiety associated with ASD were assessed using marble burying test (MBT). Biochemical analyses were done on prefrontal cortex homogenates including NRF-2, and NF-κB expression. Moreover, inducible nitric oxide synthase (iNOS) gene expression and tumor necrosis factor (TNF-) protein expression were evaluated as markers of inflammation. Results: Prenatal VPA elicited decreased social interaction shown by decreased SI compared to control group (p < 0.001) and DMF enhanced SI (p < 0.05). In MBT, prenatal injection of VPA manifested stereotyped behavior and enhanced number of buried marbles compared to control (p < 0.05) and DMF reduced the anxiety-related behavior in rats exhibiting ASD-like behaviors (p < 0.05). In prefrontal cortex, NRF-2 expression was downregulated in prenatal VPA model (p < 0.0001) and DMF reversed this effect (p < 0.0001). The inflammatory transcription factor NF-κB was elevated in prenatal VPA model (p < 0.0001) and reduced (p < 0.0001) upon NRF-2 activation by DMF. Prenatal VPA expressed higher levels of proinflammatory cytokine TNF- compared to control group (p < 0.0001) and DMF reduced it (p < 0.0001). Finally, the gene expression of iNOS was downregulated upon NRF-2 activation by DMF (p < 0.01). Conclusion: This study proposes that DMF is a potential agent that can be used to ameliorate autistic-like-changes through NRF-2 activation along with NF-κB downregulation and therefore, it is a promising novel therapy for ASD.

Keywords: autism spectrum disorders, dimethyl fumarate, neuroinflammation, NRF-2

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3567 Challenges Faced by Teachers during Teaching with Developmental Disable Students at Primary Level in Lahore

Authors: Zikra Faiz, Nisar Abid, Muhammad Waqas

Abstract:

This study aim to examine the challenges faced by teachers during teaching to those students who are intellectually disable, suffering from autism spectrum disorder, learning disability, and ADHD at the primary level. The descriptive research design of quantitative approach was adopted to conduct this study; a cross-sectional survey method was used to collect data. The sample was comprised of 258 (43 male and 215 female) teachers who teach at special education institutes of Lahore district selected through proportionate stratified random sampling technique. Self-developed questionnaire was used which was comprised of 22 closed-ended items. Collected data were analyzed through descriptive and inferential statistical techniques by using Statistical Package for Social Sciences (SPSS) version 21. Results show that teachers faced problems during group activities, to handle bad behavior and different disabilities of students. It is concluded that there was a significant difference between male and female teachers perceptions about challenges faced during teaching with developmental disable students. Furthermore, there was a significant difference exist in the perceptions of teachers regarding challenges faced during teaching to students with developmental disabilities in term of teachers’ age and area of specialization. It is recommended that developmentally disable student require extra attention so that, teacher should trained through pre-service and in-service training to teach developmentally disabled students.

Keywords: intellectual disability, autism spectrum disorder, ADHD, learning disability

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3566 Machine Learning for Disease Prediction Using Symptoms and X-Ray Images

Authors: Ravija Gunawardana, Banuka Athuraliya

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Machine learning has emerged as a powerful tool for disease diagnosis and prediction. The use of machine learning algorithms has the potential to improve the accuracy of disease prediction, thereby enabling medical professionals to provide more effective and personalized treatments. This study focuses on developing a machine-learning model for disease prediction using symptoms and X-ray images. The importance of this study lies in its potential to assist medical professionals in accurately diagnosing diseases, thereby improving patient outcomes. Respiratory diseases are a significant cause of morbidity and mortality worldwide, and chest X-rays are commonly used in the diagnosis of these diseases. However, accurately interpreting X-ray images requires significant expertise and can be time-consuming, making it difficult to diagnose respiratory diseases in a timely manner. By incorporating machine learning algorithms, we can significantly enhance disease prediction accuracy, ultimately leading to better patient care. The study utilized the Mask R-CNN algorithm, which is a state-of-the-art method for object detection and segmentation in images, to process chest X-ray images. The model was trained and tested on a large dataset of patient information, which included both symptom data and X-ray images. The performance of the model was evaluated using a range of metrics, including accuracy, precision, recall, and F1-score. The results showed that the model achieved an accuracy rate of over 90%, indicating that it was able to accurately detect and segment regions of interest in the X-ray images. In addition to X-ray images, the study also incorporated symptoms as input data for disease prediction. The study used three different classifiers, namely Random Forest, K-Nearest Neighbor and Support Vector Machine, to predict diseases based on symptoms. These classifiers were trained and tested using the same dataset of patient information as the X-ray model. The results showed promising accuracy rates for predicting diseases using symptoms, with the ensemble learning techniques significantly improving the accuracy of disease prediction. The study's findings indicate that the use of machine learning algorithms can significantly enhance disease prediction accuracy, ultimately leading to better patient care. The model developed in this study has the potential to assist medical professionals in diagnosing respiratory diseases more accurately and efficiently. However, it is important to note that the accuracy of the model can be affected by several factors, including the quality of the X-ray images, the size of the dataset used for training, and the complexity of the disease being diagnosed. In conclusion, the study demonstrated the potential of machine learning algorithms for disease prediction using symptoms and X-ray images. The use of these algorithms can improve the accuracy of disease diagnosis, ultimately leading to better patient care. Further research is needed to validate the model's accuracy and effectiveness in a clinical setting and to expand its application to other diseases.

Keywords: K-nearest neighbor, mask R-CNN, random forest, support vector machine

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3565 Burden of Severe COVID-19 in Center of Iran: Results of Disability-Adjusted Life Years (DALYs)

Authors: Moslem Taheri Soodejani, Mohammad Hassan Lotfi

Abstract:

Introduction: The outbreak of Covid-19 disease is an international public health concern. Therefore, the analysis of information related to mortality and disability due to COVID-19 is considered important, so the present study was designed and conducted with the aim of assessing COVID-19 Disability-Adjusted Life Years (DALYs) in Yazd. Methods: In Yazd province, all suspected cases of Covid-19 that would be referred to central hospitals in order to get confirmed through PCR or CT scan tests were recruited to our study. The fatality data of Covid- 19 was gathered from the forensic medicine organization. The Disability-Adjusted Life Years (DALYs) combines in one measure years of life lost (YLL), the loss of healthy life due to premature mortality and years of life lived with disability (YLD), the loss of healthy life because of disease and disability. Results: The total burden of COVID-19 was 23,472 years. The number of years lost due to premature death was 23385 and the number of years of life with disability due to COVID-19 was estimated to be 87 years. The disease burden was 12992 years for men and 10480 years for women. The overall incidence of COVID-19 was 1411 per 100,000, of which 1419 in men and 1402 in women per 100,000. Conclusion: The outbreak of the COVID-19 pandemic affected a large population and the residents of Yazd Province lost many years of their lives due to this disease.

Keywords: DALY, covid- 19, Yazd, Iran

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3564 In vitro Antiviral Activity of Ocimum sanctum against Animal Viruses

Authors: Anjana Goel, Ashok Kumar Bhatia

Abstract:

Ocimum sanctum, a well known medicinal plant is used for various alignments in Ayurvedic medicines. It was found to be effective in treating the humans suffering from different viral infections like chicken pox, small pox, measles and influenza. In addition, curative effect of the plant in malignant patients was also reported. In the present study, leaves of this plant were screened against animal viruses i.e. Bovine Herpes Virus-type-1 (BHV-1), Foot and Mouth disease virus (FMDV) and Newcastle Disease Virus (NDV). BHV-1 and FMDV were screened in MDBK and BHK cell lines respectively using cytopathic inhibition test. While NDV was propagated in chick embryo fibroblast culture and tested by haemagglutination inhibition test. Maximum non toxic dose of aqueous extract of Ocimum sanctum leaves was calculated by MTT assay in all the cell cultures and nontoxic doses were used for antiviral activity against viruses. 98.4% and 85.3% protection were recorded against NDV and BHV-1 respectively. However, Ocimum sanctum extract failed to show any inhibitory effect on the cytopathic effect caused by FMD virus. It can be concluded that Ocimum sanctum is a very effective remedy for curing viral infections in animals also.

Keywords: bovine herpes virus-type-1, foot and mouth disease virus, newcastle disease virus, Ocimum sanctum

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3563 Genomic Analysis of Whole Genome Sequencing of Leishmania Major

Authors: Fatimazahrae Elbakri, Azeddine Ibrahimi, Meryem Lemrani, Dris Belghyti

Abstract:

Leishmaniasis represents a major public health problem because of the number of cases recorded each year and the wide distribution of the disease. It is a parasitic disease of flagellated protozoa transmitted by the bite of certain species of sandfly, causing a spectrum of clinical pathology in humans ranging from disfiguring skin lesions to fatal visceral leishmaniasis. Cutaneous leishmaniasis due to Leishmania major is a polymorphic disease; in fact, the infection can be asymptomatic, localized, or disseminated. The objective of this work is to determine the genomic diversity that contributes to clinical variability by trying to identify the variation in chromosome number and to extract SNPs and SNPs and InDels; it is based on four sequences (WGS) of Leishmania major available on NCBI in Fastq form, from three countries: Tunisia, Algeria, and Israel, the analysis is set up from a pipeline to facilitate the discovery of genetic diversity, in particular SNP and chromosomal somy.

Keywords: Leshmania major, cutaneous Leishmania, NGS, genomic, somy, variant calling

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3562 Impacts of Opium Addiction on Patterns of Angiographic Findings in Patients with Coronary Artery Syndrome

Authors: Alireza Abdiardekani, Maryam Salimi, Shirin Sarejloo, Mehdi Bazrafshan, Amir Askarinejad, Amirhossein Salimi, Hanieh Bazrafshan, Salar Javanshir, Armin Attar, Shokoufeh Khanzadeh, Mohsen Esmaeili, Hamed Bazrafshan Drissi

Abstract:

Background: Opium, after tobacco, is the most abused substance in the Middle East. The effects of opium use on coronary artery disease are indeed unclear. This study aimed to assess the association between opium use and angiographic findings in patients with acute coronary syndrome (ACS) diagnosis at Al-Zahra Heart Hospital, Shiraz, Iran. Methods: In this case-control study, 170 patients admitted for coronary angiography were enrolled from 2019 to 2020. They were categorized into two groups based on their history: "non-opium" and "opium." SPSS (Version 26) was used to investigate the correlation between opioid addiction and the severity of coronary artery disease. Results: The results of our study reveal that the mean age of the participants was 61.63±9.07. This study indicated that 49 (28.82%) patients were female, and 121 (71.17%) were male. Our findings revealed that three-vessel disease was more frequent in non-opium (40; 47.05%) and opium (45; 52.94%) groups. There was a significant correlation between the severity of the second diagonal artery(D2) and right coronary artery(RCA) involvement and opium consumption. There was a strong positive correlation between the location of the vascular lesion in the left circumflex artery and opium consumption. Conclusion: Opium, as an independent risk factor for cardiovascular diseases, can have specific effects on angiographic findings in patients with coronary artery disease. Public health officials and politicians should arrange several programs to increase the general population’s consciousness about opioid use and its consequences.

Keywords: acute coronary syndrome, opium, coronary artery disease, angiography

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3561 Quality of Life of Patients on Oral Antiplatelet Therapy in Outpatient Cardiac Department Dr. Hasan Sadikin Central General Hospital Bandung

Authors: Andhiani Sharfina Arnellya, Mochammad Indra Permana, Dika Pramita Destiani, Ellin Febrina

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Health Research Data, Ministry of Health of Indonesia in 2007, showed coronary heart disease (CHD) or coronary artery disease (CAD) was the third leading cause of death in Indonesia after hypertension and stroke with 7.2% incidence rate. Antiplatelet is one of the important therapy in management of patients with CHD. In addition to therapeutic effect on patients, quality of life is one aspect of another assessment to see the success of antiplatelet therapy. The purpose of this study was to determine the quality of life of patients on oral antiplatelet therapy in outpatient cardiac department Dr. Hasan Sadikin central general hospital, Bandung, Indonesia. This research is a cross sectional by collecting data through quality of life questionnaire of patients which performed prospectively as primary data and secondary data from medical record of patients. The results of this study showed that 54.3% of patients had a good quality of life, 45% had a moderate quality of life, and 0.7% had a poor quality of life. There are no significant differences in quality of life-based on age, gender, diagnosis, and duration of drug use.

Keywords: antiplatelet, quality of life, coronary artery disease, coronary heart disease

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3560 Use of a Chagas Urine Nanoparticle Test (Chunap) to Correlate with Parasitemia Levels in T. cruzi/HIV Co-Infected Patients

Authors: Yagahira E. Castro-Sesquen, Robert H. Gilman, Carolina Mejia, Daniel E. Clark, Jeong Choi, Melissa J. Reimer-Mcatee, Rocio Castro, Jorge Flores, Edward Valencia-Ayala, Faustino Torrico, Ricardo Castillo-Neyra, Lance Liotta, Caryn Bern, Alessandra Luchini

Abstract:

Early diagnosis of reactivation of Chagas disease in HIV patients could be lifesaving; however, in Latin American the diagnosis is performed by detection of parasitemia by microscopy which lacks sensitivity. To evaluate if levels of T. cruzi antigens in urine determined by Chunap (Chagas urine nanoparticle test) are correlated with parasitemia levels in T. cruzi/HIV co-infected patients. T. cruzi antigens in urine of HIV patients (N=55: 31 T. cruzi infected and 24 T. cruzi serology negative) were concentrated using hydrogel particles and quantified by Western Blot and a calibration curve. The percentage of Chagas positive patients determined by Chunap compared to blood microscopy, qPCR, and ELISA was 100% (6/6), 95% (18/19) and 74% (23/31), respectively. Chunap specificity was 91.7%. Linear regression analysis demonstrated a direct relationship between parasitemia levels (determined by qPCR) and urine T. cruzi antigen concentrations (p<0.001). A cut-off of > 105 pg was chosen to determine patients with reactivation of Chagas disease (6/6). Urine antigen concentration was significantly higher among patients with CD4+ lymphocyte counts below 200/mL (p=0.045). Chunap shows potential for early detection of reactivation and with appropriate adaptation can be used for monitoring Chagas disease status in T. cruzi/HIV co-infected patients.

Keywords: antigenuria, Chagas disease, Chunap, nanoparticles, parasitemia, poly N-isopropylacrylamide (NIPAm)/trypan blue particles (polyNIPAm/TB), reactivation of Chagas disease.

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3559 A Field Study of Monochromatic Light Effects on Antibody Responses to Newcastle Disease by HI Test and the Correlation with ELISA

Authors: Seyed Mehrzad Pahlavani, Mozaffar Haji Jafari Anaraki, Sayma Mohammadi

Abstract:

A total of 34700 day-old broilers were exposed to green, blue and yellow light using a light-emitting diode system for 6 weeks to investigate the effects of light wave length on antibody responses to Newcastle disease by HI test and the correlation with ELISA. 3 poultry house broiler farms with the same conditions was selected and the lightening system of each was set according to the requirement. Blood samples were taken from 20 chicks on days 1, 24 and 46 and the Newcastle virus specific antibody was titered in serum using HI an ELISA test. On day 24, the probability value of more than 0/05 was observed in HI and ELISA tests of all groups while at the end of breeding period, the average HI serum antibody titer was more in the green light than the yellow one while the blue light was not significantly different from both. At the last titration, the green light has got the highest titer of Newcastle antibodies. There were no significant differences of Newcastle antibody titers between all groups and ages in broiler pullets in ELISA. According to the sampling and analysis of HI and ELISA serum tests, there were no significant relationships between all broiler pullets breeding in green, blue and yellow light on days 24 and 46 and the P-value was more than 0/05. It is suggested that the monochromatic light is effective on broilers immunity against Newcastle disease.

Keywords: monochromatic light, Newcastle disease, HI test, ELISA test

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3558 Intraoperative ICG-NIR Fluorescence Angiography Visualization of Intestinal Perfusion in Primary Pull-Through for Hirschsprung Disease

Authors: Mohammad Emran, Colton Wayne, Shannon M Koehler, P. Stephen Almond, Haroon Patel

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Purpose: Assessment of anastomotic perfusion in Hirschsprung disease using Indocyanine Green (ICG)-near-infrared (NIR) fluorescence angiography. Introduction: Anastomotic stricture and leak are well-known complications of Hirschsprung pull-through procedures. Complications are due to tension, infection, and/or poor perfusion. While a surgeon can visually determine and control the amount of tension and contamination, assessment of perfusion is subject to surgeon determination. Intraoperative use of ICG-NIR enhances this decision-making process by illustrating perfusion intensity and adequacy in the pulled-through bowel segment. This technique, proven to reduce anastomotic stricture and leak in adults, has not been studied in children to our knowledge. ICG, an FDA approved, nontoxic, non-immunogenic, intravascular (IV) dye, has been used in adults and children for over 60 years, with few side effects. ICG-NIR was used in this report to demonstrate the adequacy of perfusion during transanal pullthrough for Hirschsprung’s disease. Method: 8 patients with Hirschsprung disease were evaluated with ICG-NIR technology. Levels of affected area ranged from sigmoid to total colonic Hirschsprung disease. After leveling, but prior to anastomosis, ICG was administered at 1.25 mg (< 2 mg/kg) and perfusion visualized using an NIR camera, before and during anastomosis. Video and photo imaging was performed and perfusion of the bowel was compared to surrounding tissues. This showed the degree of perfusion and demarcation of perfused and non-perfused bowel. The anastomosis was completed uneventfully and the patients all did well. Results: There were no complications of stricture or leak. 5 of 8 patients (62.5%) had modification of the plan based on ICG-NIR imaging. Conclusion: Technologies that enhance surgeons’ ability to visualize bowel perfusion prior to anastomosis in Hirschsprung’s patients may help reduce post-operative complications. Further studies are needed to assess the potential benefits.

Keywords: colonic anastomosis, fluorescence angiography, Hirschsprung disease, pediatric surgery, SPY

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3557 Effects of Acupuncture Treatment in Gait Parameters in Parkinson's Disease

Authors: Catarina Isabel Ramos Pereira, Jorge Machado, Begona Alonso Criado, Maria João Santos

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Introduction: Gait disorders are one of the symptoms that have severe implications on the quality of life in Parkinson's disease (PD). Currently, there is no therapy to reverse or treat this condition. None of the drugs used in conventional medical treatment is entirely efficient, and all have a high incidence of side effects. Acupuncture treatment is believed to improve motor ability, but there is still little scientific evidence in individuals with PD. Aim: The aim of the study is to investigate the acute effect of acupuncture on gait parameters in Parkinson's disease. Methods: This is a randomized and controlled crossover study. The same individual patient was part of both the experimental (real acupuncture) and control group (false acupuncture/sham), and the sequence was randomized. Gait parameters were measured at two different moments, before and after treatment, using four force platforms as well as the collection of 3D markers positions taken by 11 cameras. Images were quantitatively analyzed using Qualisys Track Manager software that let us extract data related to the quality of gait and balance. Seven patients with the diagnosis of Parkinson's disease were included in the study. Results: Statistically significant differences were found in gait speed (p = 0.016), gait cadence (p = 0.006), support base width (p = 0.0001), medio-lateral oscillation (p = 0.017), left-right step length (p = 0.0002), and stride length: right-right (p = 0.0000) and left-left (p = 0.0018), time of left support phase (p = 0.029), right support phase (p = 0.025) and double support phase (p = 0.015), between the initial and final moments for the experimental group. Differences in right-left stride length were found for both groups. Conclusion: Our results show that acupuncture could enhance gait in Parkinson's disease patients. Deep research involving a larger number of volunteers should be accomplished to validate these encouraging findings.

Keywords: acupuncture, traditional Chinese medicine, Parkinson's disease, gait

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3556 Pattern of Valvular Involvement and Demographic Features of Patients on Benzathine Penicillin at Dhulikhel Hospital

Authors: Sanjaya Humagain, Rajendra Koju

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Background: Rheumatic heart disease (RHD) is the most common cardiovascular disease in children and young adults. Though declined and almost non-existent in developed nations, RHD is still one of the leading cause for premature death and disability in developing countries. Prevalence of RHD is high in both rural as well as urban area of Nepal. Present study is designed to look at the pattern of valvular involvement and demographic features in RHD. Methods: 326 patients indicated for inj. Benzathine penicillin were selected and echocardiograph performed to see the pattern of vavular involvement. Data analysis was done using SPSS 17. Result: The most common type of lesion was mixed type with mitral valve involvement. MR was the most common isolated lesion. MS was more commonly seen in females whereas AS was more common in males. Secondary prophylaxis was more common than primary prophylaxis. Conclusion: RHD still being a major problem and a preventable disease so extensive screening program is required to identify them early and prevent the complication.

Keywords: acute rheumatic fever, RHD, MS, MR, AS, AR, Inj benzathine penicillin

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3555 Coping Strategies among Caregivers of Children with Autism Spectrum Disorders: A Cluster Analysis

Authors: Noor Ismael, Lisa Mische Lawson, Lauren Little, Murad Moqbel

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Background/Significance: Caregivers of children with Autism Spectrum Disorders (ASD) develop coping mechanisms to overcome daily challenges to successfully parent their child. There is variability in coping strategies used among caregivers of children with ASD. Capturing homogeneity among such variable groups may help elucidate targeted intervention approaches for caregivers of children with ASD. Study Purpose: This study aimed to identify groups of caregivers of children with ASD based on coping mechanisms, and to examine whether there are differences among these groups in terms of strain level. Methods: This study utilized a secondary data analysis, and included survey responses of 273 caregivers of children with ASD. Measures consisted of the COPE Inventory and the Caregiver Strain Questionnaire. Data analyses consisted of cluster analysis to group caregiver coping strategies, and analysis of variance to compare the caregiver coping groups on strain level. Results: Cluster analysis results showed four distinct groups with different combinations of coping strategies: Social-Supported/Planning (group one), Spontaneous/Reactive (group two), Self-Supporting/Reappraisal (group three), and Religious/Expressive (group four). Caregivers in group one (Social-Supported/Planning) demonstrated significantly higher levels than the remaining three groups in the use of the following coping strategies: planning, use of instrumental social support, and use of emotional social support, relative to the other three groups. Caregivers in group two (Spontaneous/Reactive) used less restraint relative to the other three groups, and less suppression of competing activities relative to the other three groups as coping strategies. Also, group two showed significantly lower levels of religious coping as compared to the other three groups. In contrast to group one, caregivers in group three (Self-Supporting/Reappraisal) demonstrated significantly lower levels of the use of instrumental social support and the use of emotional social support relative to the other three groups. Additionally, caregivers in group three showed more acceptance, positive reinterpretation and growth coping strategies. Caregivers in group four (Religious/Expressive) demonstrated significantly higher levels of religious coping relative to the other three groups and utilized more venting of emotions strategies. Analysis of Variance results showed no significant differences between the four groups on the strain scores. Conclusions: There are four distinct groups with different combinations of coping strategies: Social-Supported/Planning, Spontaneous/Reactive, Self-Supporting/Reappraisal, and Religious/Expressive. Each caregiver group engaged in a combination of coping strategies to overcome the strain of caregiving.

Keywords: autism, caregivers, cluster analysis, coping strategies

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3554 Network Pharmacological Evaluation of Holy Basil Bioactive Phytochemicals for Identifying Novel Potential Inhibitors Against Neurodegenerative Disorder

Authors: Bhuvanesh Baniya

Abstract:

Alzheimer disease is illnesses that are responsible for neuronal cell death and resulting in lifelong cognitive problems. Due to their unclear mechanism, there are no effective drugs available for the treatment. For a long time, herbal drugs have been used as a role model in the field of the drug discovery process. Holy basil in the Indian medicinal system (Ayurveda) is used for several neuronal disorders like insomnia and memory loss for decades. This study aims to identify active components of holy basil as potential inhibitors for the treatment of Alzheimer disease. To fulfill this objective, the Network pharmacology approach, gene ontology, pharmacokinetics analysis, molecular docking, and molecular dynamics simulation (MDS) studies were performed. A total of 7 active components in holy basil, 12 predicted neurodegenerative targets of holy basil, and 8063 Alzheimer-related targets were identified from different databases. The network analysis showed that the top ten targets APP, EGFR, MAPK1, ESR1, HSPA4, PRKCD, MAPK3, ABL1, JUN, and GSK3B were found as significant target related to Alzheimer disease. On the basis of gene ontology and topology analysis results, APP was found as a significant target related to Alzheimer’s disease pathways. Further, the molecular docking results to found that various compounds showed the best binding affinities. Further, MDS top results suggested could be used as potential inhibitors against APP protein and could be useful for the treatment of Alzheimer’s disease.

Keywords: holy basil, network pharmacology, neurodegeneration, active phytochemicals, molecular docking and simulation

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3553 Well-being of Parents of Children with Autism Spectrum Disorder or Developmental Coordination Disorder: Cross-Cultural and Cross-disorder Comparative Studies

Authors: Léa Chawki, Émilie Cappe

Abstract:

Context: Nowadays, supporting parents of children with autism spectrum disorder (ASD) and helping them adjust to their child’s condition represents a core clinical and scientific necessity and is encouraged by the French National Strategy for Autism (2018). In France, ASD remains a challenging condition, causing distress, segregation and social stigma to concerned family members concerned by this handicap. The literature highlights that neurodevelopmental disorders in children, such as ASD, influence parental well-being. This impact could be different according to parents’ culture and the child’s particular disorder manifestation, such as developmental coordination disorder (DCC), for instance. Objectives: This present study aims to explore parental stress, anxiety and depressive symptoms, as well as the quality of life in parents of children with ASD or DCD, as well as the explicit individual, psychosocial and cultural factors of parental well-being. Methods: Participants will be recruited through diagnostic centers, child and specialized adolescent units, and organizations representing families with ASD and DCD. Our sample will include five groups of 150 parents: four groups of parents having children with ASD – one living in France, one in the US, one in Canada and the other in Lebanon – and one group of French parents of children with DCD. Self-evaluation measures will be filled directly by parents in order to measure parental stress, anxiety and depressive symptoms, quality of life, coping and emotional regulation strategies, internalized stigma, perceived social support, the child’s problem behaviors severity, as well as motor coordination deficits in children with ASD and DCD. A sociodemographic questionnaire will help collect additional useful data regarding participants and their children. Individual and semi-structured research interviews will be conducted to complete quantitative data by further exploring participants’ distinct experiences related to parenting a child with a neurodevelopmental disorder. An interview grid, specially designed for the needs of this study, will strengthen the comparison between the experiences of parents of children with ASD with those of parents of children with DCD. It will also help investigate cultural differences regarding parent support policies in the context of raising a child with ASD. Moreover, interviews will help clarify the link between certain research variables (behavioral differences between ASD and DCD, family leisure activities, family and children’s extracurricular life, etc.) and parental well-being. Research perspectives: Results of this study will provide a more holistic understanding of the roles of individual, psychosocial and cultural variables related to parental well-being. Thus, this study will help direct the implementation of support services offered to families of children with neurodevelopmental disorders (ASD and DCD). Also, the implications of this study are essential in order to guide families through changes related to public policies assisting neurodevelopmental disorders and other disabilities. The between-group comparison (ASD and DCD) is also expected to help clarify the origins of all the different challenges encountered by those families. Hence, it will be interesting to investigate whether complications perceived by parents are more likely to arise from child-symptom severity, or from the lack of support obtained from health and educational systems.

Keywords: Autism spectrum disorder, cross-cultural, cross-disorder, developmental coordination delay, well-being

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3552 Identification of Crimean-Congo Hemorrhagic Fever Virus in Patients Referred to Ahvaz and Gilan Hospitals in Iran by real-time PCR Technique

Authors: Najmeh Jafari, Sona Rostampour Yasouri

Abstract:

Crimean-Congo hemorrhagic fever (CCHF) is an acute hemorrhagic disease. This disease is one of the common diseases between humans and animals, transmitted through tick bites or contact with the blood and secretions or carcasses of infected animals and humans. CCHF is more common in people who work with livestock, such as ranchers, butchers, farmers, slaughterhouse workers, healthcare workers, etc. Its hospital prevalence is also very high. Considering that CCHF can be transmitted through the consumption of food such as beef and sheep meat, this study aims to quickly identify and diagnose the Crimean-Congo fever virus in suspected patients through real-time PCR technique. In the summer of 1402, 20 blood samples were collected separately from Ahvaz and Gilan hospitals. An extraction kit was used to extract the virus RNA. Primers and probes were designed based on the S genomic region, the conserved region in CCHFV. Then, a real-time PCR technique was performed with specific primers and probes. It should be noted that the mentioned technique was repeated several times. The number of 4 samples from the examined samples was determined positive by real-time PCR. This technique has high sensitivity and specificity and the possibility of rapid detection of CCHFV. Therefore, the above method is a good candidate for quick disease diagnosis. By diagnosing the disease, the treatment process can be done faster, and the best prevention methods can be used to control the disease and prevent the death of patients.

Keywords: ahvaz, crimean-congo hemorrhagic fever, gilan, real time PCR

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3551 Analysis and Rule Extraction of Coronary Artery Disease Data Using Data Mining

Authors: Rezaei Hachesu Peyman, Oliyaee Azadeh, Salahzadeh Zahra, Alizadeh Somayyeh, Safaei Naser

Abstract:

Coronary Artery Disease (CAD) is one major cause of disability in adults and one main cause of death in developed. In this study, data mining techniques including Decision Trees, Artificial neural networks (ANNs), and Support Vector Machine (SVM) analyze CAD data. Data of 4948 patients who had suffered from heart diseases were included in the analysis. CAD is the target variable, and 24 inputs or predictor variables are used for the classification. The performance of these techniques is compared in terms of sensitivity, specificity, and accuracy. The most significant factor influencing CAD is chest pain. Elderly males (age > 53) have a high probability to be diagnosed with CAD. SVM algorithm is the most useful way for evaluation and prediction of CAD patients as compared to non-CAD ones. Application of data mining techniques in analyzing coronary artery diseases is a good method for investigating the existing relationships between variables.

Keywords: classification, coronary artery disease, data-mining, knowledge discovery, extract

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3550 Long-Term Results of Surgical Treatment of Atrial Fibrillation in Patients with Coronary Heart Disease: One Center Experience

Authors: Emil Sakharov, Alex Zotov, Ilkin Osmanov, Oleg Shelest, Aleksander Troitskiy, Robert Khabazov

Abstract:

Objective: Since 2015, our center has been actively implementing methods of surgical correction of atrial fibrillation, in particular, in patients with coronary heart disease. The study presents a comparative analysis of the late postoperative period in patients with coronary artery bypass grafting and atrial fibrillation. Methods: The study included 150 patients with ischemic heart disease and atrial fibrillation for the period from 2015 to 2021. Patients were divided into 2 groups. The first group is represented by patients with ischemic heart disease and atrial fibrillation who underwent coronary bypass surgery and surgical correction of atrial fibrillation (N=50). The second group is represented by patients with ischemic heart disease and atrial fibrillation who underwent only myocardial revascularization (N=100). Patients were comparable in age, gender, and initial severity of the condition. Among the patients in group 1 there were 82% were men, while in the second group, their number was 75%. Among the patients of the first group, there were 36% with persistent atrial fibrillation, 20% with long-term persistent atrial fibrillation. In the second group, 10% with persistent atrial fibrillation and 17% with long-term persistent atrial fibrillation. Results: Average follow-up for groups 1 and 2 amounted to 47 months. There were no complications in group 1, such as bleeding and stroke. There was only 1 patient in group 1, who had died from cardiovascular disease. Freedom of atrial fibrillation was in 82% without AADs therapy. In group 2 there were 8 patients who had died from cardiovascular diseases and total freedom of atrial fibrillation was in 35% of patients, among which 42.8% had additional AADs therapy. Follow-up data are presented in Table 2. Progression of heart failure was observed in 3% in group 1 and 7% in group 2. Combined endpoints (recurrence of AF, stroke, progression of heart failure, myocardial infarction) were achieved in 16% in group 1 and 34% in group 2, respectively. Freedom from atrial fibrillation without antiarrhythmic therapy was 82% for group 1 and 35% for group 2. In the first group, there is a more pronounced decrease in heart failure rates. Deaths from cardiovascular causes were recorded in 2% for group 1 and 7% for group 2. Conclusion: Surgical treatment of atrial fibrillation helps to reduce adverse complications in the late postoperative period and contributes to the regression of heart failure.

Keywords: atrial fibrillation, coronary artery bypass grafting, ischaemic heart disease, heart failure

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3549 An Exploration of the Pancreatic Cancer miRNome during the Progression of the Disease

Authors: Barsha Saha, Shouvik Chakravarty, Sukanta Ray, Kshaunish Das, Nidhan K. Biswas, Srikanta Goswami

Abstract:

Pancreatic Ductal Adenocarcinoma is a well-recognised cause of cancer death with a five-year survival rate of about 9%, and its incidence in India has been found to be increased manifold in recent years. Due to delayed detection, this highly metastatic disease has a poor prognosis. Several molecular alterations happen during the progression of the disease from pre-cancerous conditions, and many such alterations could be investigated for their biomarker potential. MicroRNAs have been shown to be prognostic for PDAC patients in a variety of studies. We hereby used NGS technologies to evaluate the role of small RNA changes during pancreatic cancer development from chronic pancreatitis. Plasma samples were collected from pancreatic cancer patients (n=16), chronic pancreatitis patients (n=8), and also from normal individuals (n=16). Pancreatic tumour tissue (n=5) and adjacent normal tissue samples (n=5) were also collected. Sequencing of small RNAs was carried out after small RNAs were isolated from plasma samples and tissue samples. We find that certain microRNAs are highly deregulated in pancreatic cancer patients in comparison to normal samples. A combinatorial analysis of plasma and tissue microRNAs and subsequent exploration of their targets and altered molecular pathways could not only identify potential biomarkers for disease diagnosis but also help to understand the underlying mechanism.

Keywords: small RNA sequencing, pancreatic cancer, biomarkers, tissue sample

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3548 John Cunningham Virus Interaction with Multiple Sclerosis Disease Progression

Authors: Sina Mahdavi

Abstract:

Background and Objective: Multiple sclerosis (MS) is the most common inflammatory autoimmune disease of the central nervous system (CNS) that affects the myelination process in the CNS. Complex interactions of various "environmental or infectious" factors may act as triggers in autoimmunity and disease progression. The association between viral infections, especially the John Cunningham virus (JCV) and MS is one potential cause that is not well understood. This study aims to summarize the available data on JCV infection in MS disease progression. Materials and Methods: For this study, the keywords "Multiple sclerosis", " John Cunningham virus ", and "central nervous system" in the databases PubMed, Google Scholar, Sid, and MagIran between 2019 and 2022 were searched, and 12 articles were chosen, studied, and analyzed. Results: MS patients are candidates for natalizumab therapy, which inhibits lymphocyte migration and increases the risk of progressive multifocal leukoencephalopathy (PML), a rare lytic infection of glial cells caused by JCV. Oligodendrocytes may be the target of JCV infection in the central nervous system (CNS). Conclusion: There is a high expression of JCV during the natalizumab treatment period for MS patients, suggesting that the virus may play a role in the development of MS by inducing an inflammatory state. Therefore, it is necessary to evaluate anti-JCV antibody serum as an important risk factor for the development of PML before deciding on the treatment course for these patients.

Keywords: multiple sclerosis, John Cunningham virus, central nervous system, autoimmunity

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3547 Parameter Estimation with Uncertainty and Sensitivity Analysis for the SARS Outbreak in Hong Kong

Authors: Afia Naheed, Manmohan Singh, David Lucy

Abstract:

This work is based on a mathematical as well as statistical study of an SEIJTR deterministic model for the interpretation of transmission of severe acute respiratory syndrome (SARS). Based on the SARS epidemic in 2003, the parameters are estimated using Runge-Kutta (Dormand-Prince pairs) and least squares methods. Possible graphical and numerical techniques are used to validate the estimates. Then effect of the model parameters on the dynamics of the disease is examined using sensitivity and uncertainty analysis. Sensitivity and uncertainty analytical techniques are used in order to analyze the affect of the uncertainty in the obtained parameter estimates and to determine which parameters have the largest impact on controlling the disease dynamics.

Keywords: infectious disease, severe acute respiratory syndrome (SARS), parameter estimation, sensitivity analysis, uncertainty analysis, Runge-Kutta methods, Levenberg-Marquardt method

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3546 Multi-Layer Perceptron and Radial Basis Function Neural Network Models for Classification of Diabetic Retinopathy Disease Using Video-Oculography Signals

Authors: Ceren Kaya, Okan Erkaymaz, Orhan Ayar, Mahmut Özer

Abstract:

Diabetes Mellitus (Diabetes) is a disease based on insulin hormone disorders and causes high blood glucose. Clinical findings determine that diabetes can be diagnosed by electrophysiological signals obtained from the vital organs. 'Diabetic Retinopathy' is one of the most common eye diseases resulting on diabetes and it is the leading cause of vision loss due to structural alteration of the retinal layer vessels. In this study, features of horizontal and vertical Video-Oculography (VOG) signals have been used to classify non-proliferative and proliferative diabetic retinopathy disease. Twenty-five features are acquired by using discrete wavelet transform with VOG signals which are taken from 21 subjects. Two models, based on multi-layer perceptron and radial basis function, are recommended in the diagnosis of Diabetic Retinopathy. The proposed models also can detect level of the disease. We show comparative classification performance of the proposed models. Our results show that proposed the RBF model (100%) results in better classification performance than the MLP model (94%).

Keywords: diabetic retinopathy, discrete wavelet transform, multi-layer perceptron, radial basis function, video-oculography (VOG)

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3545 A Systematic Review of Chronic Neurologic Complications of COVID-19; A Potential Risk Factor for Narcolepsy, Parkinson's Disease, and Multiple Sclerosis.

Authors: Sulemana Saibu, Moses Ikpeme

Abstract:

Background: The severity of the COVID-19 pandemic, brought on by the SARS-CoV-2 coronavirus, has been unprecedented since the 1918 influenza pandemic. SARS-CoV-2 cases of CNS and peripheral nervous system disease, including neurodegenerative disorders and chronic immune-mediated diseases, may be anticipated based on knowledge of past coronaviruses, particularly those that caused the severe acute respiratory syndrome and Middle East respiratory syndrome outbreaks. Although respiratory symptoms are the most common clinical presentation, neurological symptoms are becoming increasingly recognized, raising concerns about their potential role in causing Parkinson's disease, Multiple sclerosis, and Narcolepsy. This systematic review aims to summarize the current evidence by exploring the association between COVID-19 infection and how it may overlap with etiological mechanisms resulting in Narcolepsy, Parkinson's disease, and Multiple sclerosis. Methods: A systematic search was conducted using electronic databases ((PubMed/MedLine, Embase, PsycINFO, ScieLO, Web of Science, ProQuest (Biotechnology, Virology, and AIDS), Scopus, and CINAHL)) to identify studies published between January 2020 and December 2022 that investigated the association between COVID-19 and Parkinson's disease, multiple sclerosis, and Narcolepsy. Per the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, the review was performed and reported. Study quality was assessed using the Critical Appraisal Skills Programme Checklist and the Joanna Briggs Institute Critical appraisal tools. Results: A total of 21 studies out of 1025 met the inclusion criteria, including 8 studies reporting Parkinson's disease, 11 on multiple sclerosis, and 2 on Narcolepsy. In COVID-19 individuals compared to the general population, Narcolepsy, Parkinson's disease, and multiple sclerosis were shown to have a higher incidence. The findings imply that COVID-19 may worsen the signs or induce multiple sclerosis and Parkinson's disease and may raise the risk of developing Narcolepsy. Further research is required to confirm these connections because the available data is insufficient. Conclusion: According to the existing data, COVID-19 may raise the risk of Narcolepsy and have a causative relationship with Parkinson's disease, multiple sclerosis, and other diseases. More study is required to confirm these correlations and pinpoint probable mechanisms behind these interactions. Clinicians should be aware of how COVID-19 may affect various neurological illnesses and should treat patients who are affected accordingly.

Keywords: COVID-19, parkinson’s disease, multiple sclerosis, narcolepsy, neurological disorders, sars-cov-2, neurodegenerative disorders, chronic immune-mediated diseases

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3544 MR Imaging Spectrum of Intracranial Infections: An Experience of 100 Cases in a Tertiary Hospital in Northern India

Authors: Avik Banerjee, Kavita Saggar

Abstract:

Infections of the nervous system and adjacent structures are often life-threatening conditions. Despite the recent advances in neuroimaging evaluation, the diagnosis of unclear infectious CNS disease remains a challenge. Our aim is to evaluate the typical and atypical neuro-imaging features of the various routinely encountered CNS infected patients so as to form guidelines for their imaging recognition and differentiation from tumoral, vascular and other entities that warrant a different line of therapy.

Keywords: central nervous system (CNS), Cerebro Spinal Fluid (Csf), Creutzfeldt Jakob Disease (CJD), progressive multifocal leukoencephalopathy (PML)

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3543 The GRIT Study: Getting Global Rare Disease Insights Through Technology Study

Authors: Aneal Khan, Elleine Allapitan, Desmond Koo, Katherine-Ann Piedalue, Shaneel Pathak, Utkarsh Subnis

Abstract:

Background: Disease management of metabolic, genetic disorders is long-term and can be cumbersome to patients and caregivers. Patient-Reported Outcome Measures (PROMs) have been a useful tool in capturing patient perspectives to help enhance treatment compliance and engagement with health care providers, reduce utilization of emergency services, and increase satisfaction with their treatment choices. Currently, however, PROMs are collected during infrequent and decontextualized clinic visits, which makes translation of patient experiences challenging over time. The GRIT study aims to evaluate a digital health journal application called Zamplo that provides a personalized health diary to record self-reported health outcomes accurately and efficiently in patients with metabolic, genetic disorders. Methods: This is a randomized controlled trial (RCT) (1:1) that assesses the efficacy of Zamplo to increase patient activation (primary outcome), improve healthcare satisfaction and confidence to manage medications (secondary outcomes), and reduce costs to the healthcare system (exploratory). Using standardized online surveys, assessments will be collected at baseline, 1 month, 3 months, 6 months, and 12 months. Outcomes will be compared between patients who were given access to the application versus those with no access. Results: Seventy-seven patients were recruited as of November 30, 2021. Recruitment for the study commenced in November 2020 with a target of n=150 patients. The accrual rate was 50% from those eligible and invited for the study, with the majority of patients having Fabry disease (n=48) and the remaining having Pompe disease and mitochondrial disease. Real-time clinical responses, such as pain, are being measured and correlated to disease-modifying therapies, supportive treatments like pain medications, and lifestyle interventions. Engagement with the application, along with compliance metrics of surveys and journal entries, are being analyzed. An interim analysis of the engagement data along with preliminary findings from this pilot RCT, and qualitative patient feedback will be presented. Conclusions: The digital self-care journal provides a unique approach to disease management, allowing patients direct access to their progress and actively participating in their care. Findings from the study can help serve the virtual care needs of patients with metabolic, genetic disorders in North America and the world over.

Keywords: eHealth, mobile health, rare disease, patient outcomes, quality of life (QoL), pain, Fabry disease, Pompe disease

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3542 Endothelial Dysfunction in Non-Alcoholic Fatty Liver Disease: An Updated Meta-Analysis

Authors: Anit S. Malhotra, Ajay Duseja, Neelam Chadha

Abstract:

Endothelial dysfunction is a precursor to atherosclerosis, and flow-mediated dilatation (FMD) in the brachial artery is the commonest method to evaluate endothelial function in humans. Non-alcoholic fatty liver disease (NAFLD) is one of the most common liver disorders encountered in clinical practice. An earlier meta-analysis had quantitatively assessed the degree of endothelial dysfunction using FMD. However, the largest study investigating the relation of FMD with NAFLD was published after that meta-analysis. In addition, that meta-analysis did not include some studies, including one from our centre. Therefore, an updating the previous meta-analysis was considered important. We searched PubMed, Cochrane Library, Embase, Scopus, SCI, Google Scholar, conference proceedings, and references of included studies till June 2017 to identify observational studies evaluating endothelial function using FMD in patients with non-alcoholic fatty liver disease. Data was analyzed using MedCalc. Fourteen studies were found eligible for inclusion in the meta-analysis. Patients with NAFLD had lower brachial artery FMD as compared to controls, standardized mean difference (random effects model) being –1.279%; 95% confidence interval (CI), –1.478 to –0.914. The effect size became smaller after addition of the recent study with the largest sample size was included compared with the earlier meta-analysis. In conclusion, patients with NAFLD had low FMD values indicating that they are at a higher risk of cardiovascular disease although our results suggest the effect size is not as large as reported previously.

Keywords: endothelial dysfunction, flow-mediated dilatation, meta-analysis, non-alcoholic fatty liver disease

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