Search results for: rare disease

Authors: Sarah Pasala, Elizabeth Zacharias

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Vital sign monitoring is crucial for both everyday health and medical diagnosis. A significant factor in assessing a human's health is their vital signs, which include heart rate, breathing rate, blood pressure, and electrocardiogram (ECG) readings. Vital sign monitoring has been the focus of many system and method innovations recently. Piezoelectrics are materials that convert mechanical energy into electrical energy and can be used for vital sign monitoring. Piezoelectric energy harvesters that are stretchable and flexible can detect very low frequencies like airflow, heartbeat, etc. Current advancements in piezoelectric materials and flexible sensors have made it possible to create wearable and implantable medical devices that can continuously monitor physiological signals in humans. But because of their non-biocompatible nature, they also produce a large amount of e-waste and require another surgery to remove the implant. This paper presents a biocompatible and flexible piezoelectric composite material for wearable and implantable devices that offers a high-performance platform for seamless and continuous monitoring of human physiological signals and tactile stimuli. It also addresses the issue of e-waste and secondary surgery. A Lead-free piezoelectric, SrBi4Ti4O15, is found to be suitable for this application because the properties can be tailored by suitable substitutions and also by varying the synthesis temperature protocols. In the present work, SrBi4Ti4O15 modified by rare-earth has been synthesized and studied. Coupling factors are calculated from resonant (fr) and anti-resonant frequencies (fa). It is observed that Samarium substitution in SBT has increased the Curie temperature, dielectric and piezoelectric properties. From impedance spectroscopy studies, relaxation, and non-Debye type behaviour are observed. The composite of bioresorbable poly(l-lactide) and Lead-free rare earth modified Bismuth Layered Ferroelectrics leads to a flexible piezoelectric device for non-invasive measurement of vital signs, such as heart rate, breathing rate, blood pressure, and electrocardiogram (ECG) readings and also artery pulse signals in near-surface arteries. These composites are suitable to detect slight movement of the muscles and joints. This Lead-free rare earth modified Bismuth Layered Ferroelectrics – polymer composite is synthesized using a ball mill and the solid-state double sintering method. XRD studies indicated the two phases in the composite. SEM studies revealed the grain size to be uniform and in the range of 100 nm. The electromechanical coupling factor is improved. The elastic constants are calculated and the mechanical flexibility is found to be improved as compared to the single-phase rare earth modified Bismuth Latered piezoelectric. The results indicate that this composite is suitable for the non-invasive detection of multiple vital signs of humans.

Keywords: composites, flexible, non-invasive, piezoelectric

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Authors: Jatinder Pal Singh, Harpreet Singh, Gagandeep Singh Digra, Mandeep Kaur Sidhu, Pawan Kumar

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Introduction: Ganglion cyst is a benign condition in which there is a cystic lesion in relation to a joint or a tendon sheath arising from myxoid degeneration of fibrous connective tissue. These can be unilocular or multilocular. In rare cases, there may be multiple ganglion cysts, known as cystic ganglionosis. They can occur at any age but are commonly seen in adults. Clinically they may be asymptomatic or present as swelling or mass effect in adjacent structures. These are common in extremities such as hands and feet. Case Presentation: 11-year-old female child presented with slowly progressive painless swelling of her right hand since the age of 4. Antenatal and perinatal history was unremarkable. Her family history was negative. She denies fever, malaise, morning stiffness, weight loss, fatigue, restriction of joint movements, or any sensory and motor deficit. Lab parameters were negative for inflammatory or infectious etiology. No other joint or extremity involvement was present. On physical examination, the swelling was present on the dorsum and palmer aspect of the right hand and wrist. They were non-tender on palpation without any motor or sensory deficit. MRI hand revealed multiple well-defined fluid signal intensity cystic appearing lesions in periarticular/intraarticular locations in relation to distal radio-ulnar, radio-carpal, intercarpal, carpometacarpal, metacarpophalangeal and interphalangeal joints as well as peritendinous location around flexor tendons more so in the region of wrist, palm, 1st and 5th digit and along extensor tendons in the region of wrist, largest one noted along flexor pollicis longus tendon in thenar region and along 1st digit measuring approx. 4.6 x 1.2 x 1.2 centimeter. Pressure erosions and bone remodelling were noted in the bases of the 2nd to 5th metacarpals, capitate, trapezoid, the distal shaft of 1st metacarpal, and proximal phalanx of 1st digit. Marrow edema was noted in the base and proximal shaft of the 4th metacarpal and proximal shaft of the 3rd metacarpal – likely stress or pressure related. The patient was advised of aspiration, but the family refused the procedure. Therefore the patient was kept on conservative treatment. Conclusion: Cystic ganglionosis is a rare condition with very few cases reported in the medical literature. Its prevalence and association are not known because of the rarity of this condition. It should be considered as an important differential in patients presenting with soft tissue swelling in extremities. Treatment option includes conservative management, aspiration, and surgery. Aspiration has a high recurrence rate. Although surgery has a low recurrence rate, it carries a high rate of complications. Imaging with MRI is essential for confirmation of the cystic nature of lesions and their relation with the joint capsules or tendons. This helps in differentiating from other soft tissue lesions and presurgical planning.

Keywords: radiology, rare, cystic ganglionosis, child

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Authors: Asma Naseer Cheema, Attya Bhatti, Jabar Ali, John Peter

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Background: High cholesterol levels, endothelial dysfunction, inefficient coagulation cascade and hyper inflammatory response all are the basis of coronary artery disease (CAD). Several studies are carried out to see the genetic influence of these factors on disease outcome. Objective: The objective of our study was to see the association of 10 putative loci with coronary artery disease in our population. Materials & Methods: We screened our population for 10 putative loci of CAD showing significant association (p < 5x10-8) with candidate genes (regulating the cholesterol metabolism, endothelial function, coagulation cascade and inflammatory response of body). Hardy-Weinberg equilibrium and linkage disequilibrium in cases and controls s were estimated separately. Approximately 5-10 ng of dried DNA in 384 well plate format was used to genotype each sample on the Sequenom iPLEX assay at University of Pittsburgh Genomics and Proteomics Core Laboratories. It was built on single-base primer extension with the MALDI-TOF MS detection possessing high sensitivity and specificity. The SNPs were genotyped through Taqman assay. Hardy Weinberg test was applied. The 10 SNPs were selected as genetic markers for this study (rs579459, rs1561198, rs2954029, rs1122608, rs17114036, rs9515203, rs10947789, rs7173743, rs2895811, rs2075650). Results: Mean age of the patient was 52 ± 11 years. Blood pressure and positive family history was found a significant risk factor for CAD. None of the selected SNPs showed significant association with coronary artery disease in our population (p>0.05). Conclusion: rs579459, rs1561198, rs2954029, rs1122608, rs17114036, rs9515203, rs10947789, rs7173743, rs2895811, rs2075650 are not significant genetic markers for CAD in our population.

Keywords: CAD, genetic markers, loci, risk factors

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Authors: Youlu Huang, Huanjun Jiang

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A large number of old masonry buildings built in the last century still remain in the city. It generates the problems of unsafety, obsolescence, and non-habitability. In recent years, many old buildings have been reconstructed through renovating façade, strengthening, and adding floors. However, most projects only provide a solution for a single problem. It is difficult to comprehensively solve problems of poor safety and lack of building functions. Therefore, a comprehensive functional renovation program of adding reinforced concrete frame story at the bottom via integrally lifting the building and then strengthening the building was put forward. Based on field measurement and YJK calculation software, the seismic performance of an actual three-story masonry structure in Shanghai was identified. The results show that the material strength of masonry is low, and the bearing capacity of some masonry walls could not meet the code requirements. The elastoplastic time history analysis of the structure was carried out by using SAP2000 software. The results show that under the 7 degrees rare earthquake, the seismic performance of the structure reaches 'serious damage' performance level. Based on the code requirements of the stiffness ration of the bottom frame (lateral stiffness ration of the transition masonry story and frame story), the bottom frame story was designed. The integral lifting process of the masonry building was introduced based on many engineering examples. The reinforced methods for the bottom frame structure strengthened by the steel-reinforced mesh mortar surface layer (SRMM) and base isolators, respectively, were proposed. The time history analysis of the two kinds of structures, under the frequent earthquake, the fortification earthquake, and the rare earthquake, was conducted by SAP2000 software. For the bottom frame structure, the results show that the seismic response of the masonry floor is significantly reduced after reinforced by the two methods compared to the masonry structure. The previous earthquake disaster indicated that the bottom frame is vulnerable to serious damage under a strong earthquake. The analysis results showed that under the rare earthquake, the inter-story displacement angle of the bottom frame floor meets the 1/100 limit value of the seismic code. The inter-story drift of the masonry floor for the base isolated structure under different levels of earthquakes is similar to that of structure with SRMM, while the base-isolated program is better to protect the bottom frame. Both reinforced methods could significantly improve the seismic performance of the bottom frame structure.

Keywords: old buildings, adding story, seismic strengthening, seismic performance

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Authors: Dina A. Amu, Fifi N. Afifah, Catur Rosidati, Tirton Nefianto

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Indonesia was shaken up by the avian influenza cases that had caused the country suffered losses of millions of dollars. The avian influenza case had even been suspected as a bioterrorism attack since it was an uncommon case in epidemiology. Furthermore, this avian influenza virus is a high pathogenic one and Indonesia has the highest case of fatality rate in the world. Bioterrorism threats or epidemic potential disease outbreaks currently does not exist in Tanjung Priok port yet. However, the surveillance system enhancement on epidemic potential diseases should be taken as a prevention, especially because Indonesia is currently facing the ASEAN Economic Society (AES). Therefore, this research evaluates the health surveillance system which is organized by Control, Quarantine and Surveillance Department, Health Office of Tanjung Priok Port. This study uses qualitative-evaluative method which utilizes Urgency Seriousness Growth (USG) method to determine priority issues and Root Cause analysis to determine the cause of prior problem. The result of this research shows that the implementation of epidemic potential disease surveillance in Tanjung Priok port has not done in the best possible way. It is because the lack of time allocation and the succinctness of the check list of ship's environmental health inspection. Therefore, Health Ministry of Indonesia should recruit more employees at the health office of Tanjung Priok port, hold a simulation of ship's inspection and simplify the list for ship's environmental health inspection.

Keywords: surveillance, epidemic potential disease, port health, bioterrorism

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Authors: Purabi Saikia

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The present study was carried out across 84 vegetated grids (>10% vegetation cover) along an urbanization gradient, ranging from the urban core to peri-urban and natural vegetation in and around Ranchi, Eastern India, aiming to examine the phytosociological attributes by belt transect (167 transects each of 0.5 ha) method. Overall, plant species richness was highest in natural vegetation (242 spp.), followed by peri-urban (198 spp.) and urban (182 spp.). Similarly, H’, CD, E, Dmg, Dmn, and ENS showed significant differences in the tree layer (H’: 0.45-3.36; CD: 0.04-1.00; E: 0.25-0.96; Dmg: 0.18-7.15; Dmn: 0.03-4.24, and ENS: 1-29) in the entire urbanization gradient. Various α-diversity indices of the adult trees (H’: 3.98, Dmg: 14.32, Dmn: 2.38, ENS: 54) were comparatively better in urban vegetation compared to peri-urban (H’: 2.49, Dmg: 10.37, Dmn: 0.81, ENS: 12) and natural vegetation (H’: 2.89, Dmg: 13.46, Dmn: 0.85, ENS: 18). Tree communities have shown better response and adaptability in urban vegetation than shrubs and herbs. The prevalence of rare (41%), very rare (29%), and exotic species (39%) in urban vegetation may be due to the intentional introduction of a number of fast-growing exotic tree species in different social forestry plantations that have created a diverse and heterogeneous habitat. Despite contagious distribution, the majority of trees (36.14%) have shown no regeneration in the entire urbanization gradient. Additionally, a quite high percentage of IUCN red-listed plant species (51% and 178 spp.), including endangered (01 sp.), vulnerable (03 spp.), near threatened (04 spp.), least concern (163 spp.), and data deficient (07 spp.), warrant immediate policy interventions. Overall, the study witnessed subsequent transformations in floristic composition and structure from urban to natural vegetation in Eastern India. The outcomes are crucial for fostering resilient ecosystems, biodiversity conservation, and sustainable development in the region that supports diverse plant communities.

Keywords: floristic communities, urbanization gradients, exotic species, regeneration

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Authors: Sree Sanyal

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Research in ageing often highlights the age-related health dimension more than the psycho-social characteristics of the elderly, which also influences and challenges the health outcomes. Multimorbidity is defined as the person having more than one chronic non-communicable diseases and their prevalence increases with ageing. The study aims to evaluate the influence of social ties on self-reported prevalence of multimorbidity (selected chronic non-communicable diseases) among the selected states of elderly population in India. The data is accessed from Building Knowledge Base on Population Ageing in India (BKPAI), collected in 2011 covering the self-reported chronic non-communicable diseases like arthritis, heart disease, diabetes, lung disease with asthma, hypertension, cataract, depression, dementia, Alzheimer’s disease, and cancer. The data of the above diseases were taken together and categorized as: ‘no disease’, ‘one disease’ and ‘multimorbidity’. The predicted variables were demographic, socio-economic, residential types, and the variable of social ties includes social support, social engagement, perceived support, connectedness, and importance of the elderly. Predicted probability for multiple logistic regression was used to determine the background characteristics of the old in association with chronic morbidities showing multimorbidity. The finding suggests that 24.35% of the elderly are suffering from multimorbidity. Research shows that with reference to ‘no disease’, according to the socio-economic characteristics of the old, the female oldest old (80+) from others in caste and religion, widowed, never had any formal education, ever worked in their life, coming from the second wealth quintile standard, from rural Maharashtra are more prone with ‘one disease’. From the social ties background, the elderly who perceives they are important to the family, after getting older their decision-making status has been changed, prefer to stay with son and spouse only, satisfied with the communication from their children are more likely to have less single morbidity and the results are significant. Again, with respect to ‘no disease’, the female oldest old (80+), who are others in caste, Christian in religion, widowed, having less than 5 years of education completed, ever worked, from highest wealth quintile, residing in urban Kerala are more associated with multimorbidity. The elderly population who are more socially connected through family visits, public gatherings, gets support in decision making, who prefers to spend their later years with son and spouse only but stays alone shows lesser prevalence of multimorbidity. In conclusion, received and perceived social integration and support from associated neighborhood in the older days, knowing about their own needs in life facilitates better health and wellbeing of the elderly population in selected states of India.

Keywords: morbidity, multi-morbidity, prevalence, social ties

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Authors: Enrique Barbieri

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The basic disease-spread model described by three states denoting the susceptible (S), infectious (I), and removed (recovered and deceased) (R) sub-groups of the total population N, or SIR model, has been considered. Heuristic mitigating action profiles of the pharmaceutical and non-pharmaceutical types may be developed in a control design setting for the purpose of reducing the transmission rate or improving the recovery rate parameters in the model. Even though the transmission and recovery rates are not control inputs in the traditional sense, a linear observer and feedback controller can be tuned to generate an asymptotic estimate of the transmission rate for a linearized, discrete-time version of the SIR model. Then, a set of mitigating actions is suggested to steer the basic reproduction number toward unity, in which case the disease does not spread, and the infected population state does not suffer from multiple waves. The special case of piecewise constant transmission rate is described and applied to a seventh-order SEIQRDP model, which segments the population into four additional states. The offline simulations in discrete time may be used to produce heuristic policies implemented by public health and government organizations.

Keywords: control of SIR, observer, SEIQRDP, disease spread

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Authors: Lydia Foucan, Christine Rambhojan, Rachel Billy, Christophe Armand, Carl-Thony Michel, Jean-Marc Lacorte, Laurent Larifla

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Leptin, an adipocyte-derived hormone, modulates insulin secretion and action via the leptin receptor (LEPR) that is expressed in pancreatic beta cells, adipose tissue, and muscle. Several polymorphisms have been described in the human LEPR gene including p.K109R (rs1137100), p.Q223R (rs1137101) and p.K656N (rs1805094) polymorphisms. The role of these polymorphisms is not yet studied in Guadeloupian population. Our aim was to explore the association of LEPR polymorphisms (K109R, Q223R and K656N) with leptin levels and obesity in non-diabetic Afro-Caribbean subjects. Genotypic analysis of the three polymorphisms was performed in 425 subjects using TaqMan and KASPar Assays. Serum leptin was measured with ELISA kits Biovendor® (RD191001100). Logistic regressions were used for assessment of statistical associations. Mean age was 47.6 ± 12.7 years. Among the participants, 238 (56 %) were women, 124 (30%) were obese and 155 (36.5%) had abdominal obesity. Carriers of LEPR K656N rs1805094 rare allele had significant higher frequencies of obesity (P = 0.007), abdominal obesity (P = 0.004) and metabolic syndrome (P = 0.021) but mean leptin level was not significantly different between both groups (P = 0.075). Odds ratios, adjusted for age and sex associated with presence of rs1805094 rare allele were 1.8 (1.1-2.9), P = 0.012 for obesity, 2.0 (1.2-3.3), P = 0.008 for abdominal obesity and 1.8 (1.1-3.0), P = 0.031 for MetS. No significant association was found with K109R, Q223R. These findings suggest that the K656N polymorphism (but not the K109R or Q223R polymorphism) of LEPR is associated with obesity, abdominal obesity and metabolic syndrome in this Afro-Caribbean non-diabetic population.

Keywords: Afro-Caribbean, leptin levels, leptin receptor gene polymorphisms, obesity

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Authors: M. Samsami, A. Hekmatdoost, N. Ebrahimi Daryani, P. Rezanejad Asl

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Ulcerative colitis (UC) is an inflammatory bowel disease in which immune and inflammatory factors are thought to be effective in this disease. Resveratrol is an antioxidant and anti-inflammatory compound. This study determined the effects of resveratrol compound on inflammatory factors in patients with ulcerative colitis. This study was a double-blind randomized clinical trial conducted on 50 patients with UC. Subjects received one capsule daily for 6 wk of either resveratrol (500 mg) or a placebo. Inflammatory factors, anthropometric measures, and IBDQ-9 (Inflammatory Bowel Disease Questionnaire-9) scores were assessed at baseline and at the end of the study. STATA12 software was used for data analysis. No significant differences were found in the background variables between the two groups at baseline. The results indicated that resveratrol supplementation for 6 week significantly decreased plasma levels of TNF-a and hs-CRP and the activity of NF-κB over the placebo group (p<0.001). Significant differences remained after adjustment for vitamin C (p<0.0001). The IBDQ-9 scores increased significantly in the resveratrol group over the placebo group (p<0.001). The findings of this study showed that resveratrol supplementation can be useful in patients with ulcerative colitis.

Keywords: IBD, inflammation, resveratrol, ulcerative colitis

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Authors: Angelis P. Barlampas

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Purpose of Learning Objective: This case depicts the need for cooperation between the emergency department and the radiologist to achieve the best diagnostic result for the patient. The clinical picture must correlate well with the radiology report and when it does not, this is not necessarily someone’s fault. Careful interpretation and good knowledge of the limitations, advantages and disadvantages of each imaging procedure are essential for the final diagnostic goal. Methods or Background: A patient was brought to the emergency department by their relatives. He was suddenly confused and his mental status was altered. He hadn't any history of mental illness and was otherwise healthy. A computing tomography scan without contrast was done, but it was unremarkable. Because of high clinical suspicion of probable neurologic disease, he was admitted to the hospital. Results or Findings: Another T was done after 48 hours. It showed a hypodense region in both thalamic areas. Taking into account that the first CT was normal, but the initial clinical picture of the patient was alerting of something wrong, the repetitive CT exam is highly suggestive of a probable diagnosis of bilateral thalamic infractions. Differential diagnosis: Primary bilateral thalamic glioma, Wernicke encephalopathy, osmotic myelinolysis, Fabry disease, Wilson disease, Leigh disease, West Nile encephalitis, Greutzfeldt Jacob disease, top of the basilar syndrome, deep venous thrombosis, mild to moderate cerebral hypotension, posterior reversible encephalopathy syndrome, Neurofibromatosis type 1. Conclusion: As is the case of limitations for any imaging procedure, the same applies to CT. The acute ischemic attack can not depict on CT. A period of 24 to 48 hours has to elapse before any abnormality can be seen. So, despite the fact that there are no obvious findings of an ischemic episode, like paresis or imiparesis, one must be careful not to attribute the patient’s clinical signs to other conditions, such as toxic effects, metabolic disorders, psychiatric symptoms, etc. Further investigation with MRI or at least a repeated CT must be done.

Keywords: CNS, CT, thalamus, emergency department

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Authors: Salah Hadjout, Mohamed Zouidi

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In Algeria, several works carried out in recent years have shown the importance of fusarium head blight in durum wheat. Indeed, this disease is caused by a complex of Fusarium genus pathogens. The research carried out reports that F. culmorum is the main species infecting cereals. These informations motivated our interest in the field evaluation of the behavior of some durum wheat genotypes (parental varieties and lines) with regard to fusarium head blight, mainly caused by four F. culmorum isolates. Our research work focused on following the evolution of symptom development throughout the grain filling, after artificial inoculation of ears by Fusarium isolates in order to establish a first image on the differences in genotype behavior to fusarium haed blight. Field disease assessment criteria are: disease assessment using a grading scale, thousand grain weight measurement and AUDPC. The results obtained revealed that the varieties and lines resulting from crosses had a quite different level of sensitivity to F. culmorum species and no genotype showed complete resistance in our culture conditions. Among the material tested, some lines showed higher resistance than their parents. The results also show a slight behavioral variability also linked to the aggressiveness of the Fusarium species studied in this work. Our results open very important research perspectives on fusarium head blight, in particular the search for toxins produced by Fusarium species.

Keywords: fusarium head blight, durum wheat, Fusarium culmorum, field disease assessment criteria, Algeria

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Authors: Ali Saeed Alghamdi, Basel Mazen Alsolami, Basel Saeed Alghamdi, Muhanad Saleh Alzahrani Alamri, Salman Anwar Thabet, Abdulhalim J. Kinsara

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Objectives: This study measures the knowledge of the cardiovascular disease among the general population in western regions of Saudi Arabia, and it aimed to increase the level of awareness about cardiovascular diseases among the general population by providing an awareness lecture that included information about the risk factors, major symptoms, and prevention of cardiovascular diseases. The lecture has been attached at the end of the questionnaire. Setting: This study was conducted through an online questionnaire that included our aim and main objectives that targeted the general population in the Western regions of Saudi Arabia (Makkah and Madinah regions). Participants: This study participants were 460 collected through an online questionnaire. Methods: All Saudi citizens and residents who live in the western region of Saudi Arabia aged 18 years and above will be invited to participate voluntarily. A pre-structured questionnaire was designed to collect data on age, gender, marital status, education level, occupation, lifestyle habits, and history of heart diseases, with cardiac symptoms and risk factors sections. Results: The majority of respondents were females (74.8%) and Saudis. The knowledge about cardiovascular disease risk factors was weak. Only (18.5%) scores an excellent response regarding risk factors awareness. Lack of exercise, stress, and obesity were the most known risk factors. Regarding cardiovascular disease symptoms, chest pain scores the highest symptom (87.6%) among other symptoms like dyspnea, syncope, and excessive sweating. Participants revealed a poor awareness regarding cardiovascular disease symptoms also (0.9%). However, preventable factors for cardiovascular diseases were more knowledgeable than others categories in this study (60% fall into excellent knowledge). Smoking cessation, normal cholesterol level, and normal blood pressure score the highest preventable methods (92.2%), (88.6%), and (78.7%) respectively. 83.7% of the participant have attended the awareness lecture, and 99 of the attendees reported that the lecture increased their knowledge about cardiovascular disease. Conclusion: This study discussed the level of community awareness of cardiovascular disease in terms of symptoms, risk factors, and protective factors. We found a huge lack of the participant's level of knowledge about the disease and how to prevent it. Moreover, we measure the prevalence of the comorbidities among our participants (diabetes, hypertension, hypercholesterolemia/ hypertriglyceridemia) and their extent of adherence to their medication. In conclusion, this study not only demonstrates awareness of cardiovascular disease risk factors, symptoms, management, and the association between each domain but also provides educational material. Further educational material and campaigns are required to increase awareness and knowledge about cardiovascular diseases.

Keywords: awareness, cardiovascular diseases, education, prevention, risk factors

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Authors: Md. Minhazul Islam, Shah Ashisul Abed Nipun, Majharul Islam, Md. Abdur Rakib Rahat, Jonayet Miah, Salsavil Kayyum, Anwar Shadaab, Faiz Al Faisal

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The target of this research is to predict Myocardial Infarction using unsupervised Machine Learning algorithms. Myocardial Infarction Prediction related to heart disease is a challenging factor faced by doctors & hospitals. In this prediction, accuracy of the heart disease plays a vital role. From this concern, the authors have analyzed on a myocardial dataset to predict myocardial infarction using some popular Machine Learning algorithms K-Means and Hierarchical Clustering. This research includes a collection of data and the classification of data using Machine Learning Algorithms. The authors collected 345 instances along with 26 attributes from different hospitals in Bangladesh. This data have been collected from patients suffering from myocardial infarction along with other symptoms. This model would be able to find and mine hidden facts from historical Myocardial Infarction cases. The aim of this study is to analyze the accuracy level to predict Myocardial Infarction by using Machine Learning techniques.

Keywords: Machine Learning, K-means, Hierarchical Clustering, Myocardial Infarction, Heart Disease

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Authors: Amarachukwu B. Isiaka, Vivian N. Anakwenze, Chinyere C. Ezemba, Chiamaka R. Ilodinso, Chikodili G. Anaukwu, Chukwuebuka M. Ezeokoli, Ugonna H. Uzoka

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Infectious diseases continue to pose significant threats to global public health, necessitating advanced and timely detection methods for effective outbreak management. This study explores the integration of artificial intelligence (AI) in the early detection and management of infectious disease outbreaks. Leveraging vast datasets from diverse sources, including electronic health records, social media, and environmental monitoring, AI-driven algorithms are employed to analyze patterns and anomalies indicative of potential outbreaks. Machine learning models, trained on historical data and continuously updated with real-time information, contribute to the identification of emerging threats. The implementation of AI extends beyond detection, encompassing predictive analytics for disease spread and severity assessment. Furthermore, the paper discusses the role of AI in predictive modeling, enabling public health officials to anticipate the spread of infectious diseases and allocate resources proactively. Machine learning algorithms can analyze historical data, climatic conditions, and human mobility patterns to predict potential hotspots and optimize intervention strategies. The study evaluates the current landscape of AI applications in infectious disease surveillance and proposes a comprehensive framework for their integration into existing public health infrastructures. The implementation of an AI-driven early detection system requires collaboration between public health agencies, healthcare providers, and technology experts. Ethical considerations, privacy protection, and data security are paramount in developing a framework that balances the benefits of AI with the protection of individual rights. The synergistic collaboration between AI technologies and traditional epidemiological methods is emphasized, highlighting the potential to enhance a nation's ability to detect, respond to, and manage infectious disease outbreaks in a proactive and data-driven manner. The findings of this research underscore the transformative impact of harnessing AI for early detection and management, offering a promising avenue for strengthening the resilience of public health systems in the face of evolving infectious disease challenges. This paper advocates for the integration of artificial intelligence into the existing public health infrastructure for early detection and management of infectious disease outbreaks. The proposed AI-driven system has the potential to revolutionize the way we approach infectious disease surveillance, providing a more proactive and effective response to safeguard public health.

Keywords: artificial intelligence, early detection, disease surveillance, infectious diseases, outbreak management

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Authors: Arash Osmani, Ian Robertson, Ihab Habib, Ahmad Aslami

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Foot and Mouth Disease (FMD) is endemic in Afghanistan. A retrospective study of data collected through passive surveillance of outbreaks of FMD from 1995 to 2016 was undertaken. A total of 1471 outbreaks were reported between 1995 and 2008. Of 7776 samples originating from 34 provinces tested between 2009 and 2016 4845 (62.3%) tested positive. The prevalence varied significantly between years (2009 and 2016) (P < 0.001); however, the number of outbreaks did not differ significantly (P = 0.24) between 1995 and 2008. During this period, there was a strong correlation between the number of outbreaks reported and the number of districts with infected animals (r = 0.74, P = 0.002). Serotype O was the predominant serotype detected, although serotypes A and Asia1 were also detected. Cattle were involved in all outbreaks reported. Herat province in the north-west (bordering Iran), Nangarhar province in the east (bordering Pakistan) and Kabul province in the centre of the country had infections detected in all years of the study. The findings from this study provide valuable direction for further research to understand the epidemiology of FMD in Afghanistan.

Keywords: foot and mouth disease, retrospective, epidemiology, Afghanistan

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Authors: Hediyeh Talebi, Shokoofeh Ghiam, Changiz Eslahchi

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Traditionally, Alzheimer’s disease research has focused on genes with significant fold changes, potentially neglecting subtle but biologically important alterations. Our study introduces an integrative approach that highlights genes crucial to underlying biological processes, regardless of their fold change magnitude. Alzheimer's Single-cell RNA-seq data related to the peripheral blood mononuclear cells (PBMC) was extracted from the Gene Expression Omnibus (GEO). After quality control, normalization, scaling, batch effect correction, and clustering, differentially expressed genes (DEGs) were identified with adjusted p-values less than 0.05. These DEGs were categorized based on cell-type, resulting in four datasets, each corresponding to a distinct cell type. To distinguish between cells from healthy individuals and those with Alzheimer's, an adversarial autoencoder with a classifier was employed. This allowed for the separation of healthy and diseased samples. To identify the most influential genes in this classification, the weight matrices in the network, which includes the encoder and classifier components, were multiplied, and focused on the top 20 genes. The analysis revealed that while some of these genes exhibit a high fold change, others do not. These genes, which may be overlooked by previous methods due to their low fold change, were shown to be significant in our study. The findings highlight the critical role of genes with subtle alterations in diagnosing Alzheimer's disease, a facet frequently overlooked by conventional methods. These genes demonstrate remarkable discriminatory power, underscoring the need to integrate biological relevance with statistical measures in gene prioritization. This integrative approach enhances our understanding of the molecular mechanisms in Alzheimer’s disease and provides a promising direction for identifying potential therapeutic targets.

Keywords: alzheimer's disease, single-cell RNA-seq, neural networks, blood biomarkers

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Authors: A. Seham A. Elgamal, Reham H. Saleh

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Chronic kidney disease became a global health problem worldwide. Therefore, in order to maintain a patient’s life and improve the survival rate, hemodialysis is essential to replace the function of their kidneys. However, those patients may complain about multiple physical and psychological stressors due to the nature of the disease and the need for frequent hemodialysis sessions. So, those patients use various strategies to cope with the stressors related to their disease and the treatment procedures. Cross-sectional, descriptive study was carried out to achieve the aim of the study. A convenient sample including all adult patients was recruited for this study. Hemodialysis Stressors Scale (HSS) and Jalowiec Coping Scale (JCS) were used to investigate the stressors and coping strategies of 89 hemodialysis patients, at a governmental hospital (King Khalid Hospital-Jeddah). Results of the study revealed that 50.7% experienced physiological stressors and 38% experienced psychosocial stressors. Also, optimistic, fatalistic, and supportive coping strategies were the most common coping strategies used by the patients with mean scores (2.88 + 0.75, 2.87 + 0.75, and 1.82 + 0.71), respectively. In conclusion, being familiar with the types of stressors and the effective coping strategies of hemodialysis patients and their families are important in order to enhance their adaptation with chronic kidney diseases.

Keywords: copying strategies, hemodialysis, physiological stressors, psychological stressors

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Authors: Ahmed El-Sabbagh, Heba Mansour, Magdy El-Hedeny

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This study provided a taphonomic alteration and paleoecology of Cenomanian oysters from the Musabaa Salama area, south western Sinai, Egypt. Three oyster zones can be recognized in the studied area, a lower one of Amphidonte (Ceratostreon) flabellatum (lower-middle Cenomanian), a middle zone of Ilymatogyra (Afrogyra) africana (upper Cenomanian) and an upper one of Exogyra (Costagyra) olisiponensis (upper Cenomanian). Taphonomic features including disarticulation, fragmentation, encrustation and bioerosion were subjected to multivariate statistical analyses. The analyses showed that the distributions of the identified ichnospecies were greatly similar within the identified oyster zones in the Musabaa Salama section. With rare exceptions, Entobia cretacea, Gastrochaenolites torpedo and Maeandropolydora decipiens are considered as common to abundant ichnospecies within the three recorded oyster zones. In contrast, and with some exceptions, E. ovula, E. retiformis and Rogerella pattei are considered as frequent to common ichnospecies within the identified oyster zones. Other ichnospecies, including Caulostrepsis cretacea, G. orbicularis, Trypanites solitarius, E. geometrica and C. taeniola, are mostly recorded in rare to frequent occurrences. Careful investigation of these host shells and the preserved encrusters and/or bioerosion sculptures provided data concerning: 1) the substrate characteristics, 2) time of encrustation and bioerosion, 3) rate of sedimentation, 4) the planktonic productivity level, and 5) the general bathymetry and the rate of transgression across the substrate.

Keywords: oysters, Cenomanian, taphonomy, palaeoecology, Sinai, Egypt

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Authors: Fakhr Eddin Alnaal, Angela Dahdal, Duaa Aladib, Sabeen Ibrahim, Ibrahim Ghoraibi, Bissan Ahmed

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Dementia is one of the diseases which had several stages and Alzheimer’s term was selected in respect for the first doctor Alzheimer who defined the first symptoms of this diseases in a woman whom was well treated by him. The fact that this is a type of a silent disease on which you have a long-term process of neurological degradation and suddenly gives symptoms which are most often irreversible, on clinical level likely we can consider it as a malignancy, one in terms of that it is sudden shocking irreversible and on the level of behavior and some mortality beside the lack of early detection tools for diagnosis. Therefore, the goal of our project is to test the concept of the ability of Statin in prevention of such disease and we investigated that both on experimental level and most importantly on clinical one, the clinical part was performed in a recognized house of aged people who had accidently a high cholesterol and were for years given Statin to treat that elevation, however after the symptoms of Alzheimer’s appeared and when diagnosed, they were well treated and rapidly recovered compared to Alzheimer’s patients in the same house who did not receive Statin had a mild improvement in their symptoms after the therapy, on the other hand we confirmed such observation by a well-organized experimental work.

Keywords: Alzheimer's, dementia, silent disease, statin

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Authors: Adekunle Kolawole Ojo, Idowu Peter Adebayo, Egwuche Sylvester O.

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Chronic Kidney Disease (CKD) is a significant cause of morbidity and mortality across developed and developing nations and is associated with increased risk. There are no existing electronic means of capturing and monitoring CKD in Nigeria. The work is aimed at developing a spatial data model that can be used to implement renal registries required for tracking and monitoring the spatial distribution of renal diseases by public health officers and patients. In this study, we have developed a spatial data model for a functional renal registry.

Keywords: renal registry, health informatics, chronic kidney disease, interface

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Authors: Rahele Mosleh

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This paper gives a survey of results on global stability of extended Ross model for malaria by constructing some elegant Lyapunov functions for two cases of epidemic, including disease-free and endemic occasions. The model is a nonlinear seven-dimensional system of ordinary differential equations that simulates this phenomenon in a more realistic fashion. We discuss the existence of positive disease-free and endemic equilibrium points of the model. It is stated that extended Ross model possesses invariant solutions for human and mosquito in a specific domain of the system.

Keywords: global stability, invariant solutions, Lyapunov function, stationary points

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Authors: Leonardo C. Pacheco-Londoño, Nataly J. Galan-Freyle, Lisandro Pacheco-Lugo, Antonio Acosta, Elkin Navarro, Gustavo Aroca-Martínez, Karin Rondón-Payares, Samuel P. Hernández-Rivera

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In our Life Science Research Center of the University Simon Bolivar (LSRC), one of the focuses is the diagnosis and prognosis of different diseases; we have been implementing the use of gold nanoparticles (Au-NPs) for various biomedical applications. In this case, Au-NPs were used for Surface-Enhanced Raman Spectroscopy (SERS) in different diseases' diagnostics, such as Lupus Nephritis (LN), hypertension (H), preeclampsia (PC), and others. This methodology is proposed for the diagnosis of each disease. First, good signals of the different metabolites by SERS were obtained through a mixture of urine samples and Au-NPs. Second, PLS-DA models based on SERS spectra to discriminate each disease were able to differentiate between sick and healthy patients with different diseases. Finally, the sensibility and specificity for the different models were determined in the order of 0.9. On the other hand, a second methodology was developed using machine learning models from all data of the different diseases, and, as a result, a discriminant spectral map of the diseases was generated. These studies were possible thanks to joint research between two university research centers and two health sector entities, and the patient samples were treated with ethical rigor and their consent.

Keywords: SERS, Raman, PLS-DA, diseases

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Authors: Patompong Satapornpong, Therdpong Tempark, Pawinee Rerknimitr, Jettanong Klaewsongkram, Chonlaphat Sukasem

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Dapsone (4, 4’-diaminodiphenyl sulfone, DDS) is broadly used for the treatment of inflammatory diseases and infections such as; leprosy, Pneumocystis jiroveci pneumonia in patients with HIV infection, neutrophilic dermatoses, dermatitis herpetiformis and autoimmune bullous disease. The severe cutaneous adverse drug reactions (SCARs) including, Stevens-Johnson syndrome (SJS), toxic epidermal necrolysis (TEN) and drug reaction with eosinophilia and systemic symptoms (DRESS) are rare but severe life-threatening adverse drug reactions. Dapsone is one of many culprit drugs induced SJS, TEN and DRESS. Notwithstanding, to our knowledge, there are no studies of the association of HLA class I alleles and dapsone-induced SCARs in non-leprosy Thai patients. This investigation was a prospective cohort study, which performed in a total of 45 non-leprosy patients. Fifteen patients of dapsone-induced SCARs were classified as following the RegiSCAR criteria, and 30 dapsone-tolerant controls were exposed to dapsone more than 6 months without any evidence of cutaneous reactions. The genotyping of HLA-A, -B and –C were performed using sequence-specific oligonucleotides (PCR-SSOs). The Ethics Committee of Ramathibodi hospital, Mahidol University, approved this study. Among all HLA class I alleles, HLA-A*24:07, HLA-B*13:01, HLA-B*15:02, HLA-C*03:04 and HLA-C*03:09 were significantly associated with dapsone-induced SCARs (OR = 10.55, 95% CI = 1.06 – 105.04, p = 0.0360; OR = 56.00, 95% CI = 8.27 – 379.22, p = 0.0001; OR = 7.00, 95% CI = 1.17 – 42.00, p = 0.0322; OR = 6.00, 95% CI = 1.24 – 29.07, p = 0.0425 and OR = 17.08, 95% CI = 0.82 – 355.45, p = 0.0321, respectively). Furthermore, HLA-B*13:01 allele had strong association with dapsone-induced SJS-TEN and DRESS when compared with dapsone-tolerant controls (OR = 42.00, 95% CI = 2.88 – 612.31, p = 0.0064 and OR = 63.00, 95% CI = 7.72 – 513.94 and p = 0.0001, respectively). Consequently, HLA-B*13:01 might serve as a pharmacogenetic marker for screening before initiating the therapy with dapsone for prevention of dapsone-induced SCARs.

Keywords: dapsone-induced SCARs, HLA-B*13:01, HLA class I alleles, severe cutaneous adverse reactions, Thai

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Authors: M. Aghili, S. Tabarestani, C. Freytes, M. Shojaie, M. Cabrerizo, A. Barreto, N. Rishe, R. E. Curiel, D. Loewenstein, R. Duara, M. Adjouadi

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A major challenge in medical studies, especially those that are longitudinal, is the problem of missing measurements which hinders the effective application of many machine learning algorithms. Furthermore, recent Alzheimer's Disease studies have focused on the delineation of Early Mild Cognitive Impairment (EMCI) and Late Mild Cognitive Impairment (LMCI) from cognitively normal controls (CN) which is essential for developing effective and early treatment methods. To address the aforementioned challenges, this paper explores the potential of using the eXtreme Gradient Boosting (XGBoost) algorithm in handling missing values in multiclass classification. We seek a generalized classification scheme where all prodromal stages of the disease are considered simultaneously in the classification and decision-making processes. Given the large number of subjects (1631) included in this study and in the presence of almost 28% missing values, we investigated the performance of XGBoost on the classification of the four classes of AD, NC, EMCI, and LMCI. Using 10-fold cross validation technique, XGBoost is shown to outperform other state-of-the-art classification algorithms by 3% in terms of accuracy and F-score. Our model achieved an accuracy of 80.52%, a precision of 80.62% and recall of 80.51%, supporting the more natural and promising multiclass classification.

Keywords: eXtreme gradient boosting, missing data, Alzheimer disease, early mild cognitive impairment, late mild cognitive impair, multiclass classification, ADNI, support vector machine, random forest

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Authors: Nouha Bouayed Abdelmoula, Rim Louati, Nawel Abdellaoui, Balkiss Abdelmoula, Oldez Kaabi, Walid Smaoui, Samir Aloulou

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Background and Aims: Cardiofaciocutaneous syndrome (CFC) is an autosomal dominant disorder with the vast majority of cases arising by a new mutation of BRAF, MEK1, MEK2, or rarely, KRAS genes. Here, we report a rare Tunisian case of CFC syndrome for whom we identify SOS1 mutation. Methods: Genomic DNA was obtained from peripheral blood collected in an EDTA tube and extracted from leukocytes using the phenol/chloroform method according to standard protocols. High resolution melting (HRM) analysis for screening of mutations in the entire coding sequence of PTPN11 was conducted first. Then, HRM assays to look for hot spot mutations coding regions of the other genes of the RAS-MAPK pathway (RAt Sarcoma viral oncogene homolog Mitogen-Activated Protein Kinases Pathway): SOS1, SHOC2, KRAS, RAF1, KRAS, NRAS, CBL, BRAF, MEK1, MEK2, HRAS, and RIT1, were applied. Results: Heterozygous SOS1 point mutation clustered in exon 10, which encodes for the PH domain of SOS1, was identified: c.1655 G > A. The patient was a 9-year-old female born from a consanguineous couple. She exhibited pulmonic valvular stenosis as congenital heart disease. She had facial features and other malformations of Noonan syndrome, including macrocephaly, hypertelorism, ptosis, downslanting palpebral fissures, sparse eyebrows, a short and broad nose with upturned tip, low-set ears, high forehead commonly associated with bitemporal narrowing and prominent supraorbital ridges, short and/or webbed neck and short stature. However, the phenotype is also suggestive of CFC syndrome with the presence of more severe ectodermal abnormalities, including curly hair, keloid scars, hyperkeratotic skin, deep plantar creases, and delayed permanent dentition with agenesis of the right maxillary first molar. Moreover, the familial history of the patient revealed recurrent brain malignancies in the paternal family and epileptic disease in the maternal family. Conclusions: This case report of an overlapping RASopathy associated with SOS1 mutation and familial history of brain tumorigenesis is exceptional. The evidence suggests that RASopathies are truly cancer-prone syndromes, but the magnitude of the cancer risk and the types of cancer partially overlap.

Keywords: cardiofaciocutaneous syndrome, CFC, SOS1, brain cancer, germline mutation

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Authors: Mateen A Khan, Taj Mohammad, Md. Imtaiyaz Hassan

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Alzheimer’s disease is characterized by the accumulation of the processing products of the amyloid beta peptide cleaved by amyloid precursor protein (APP). Iron increases the synthesis of amyloid beta peptides, which is why iron is present in Alzheimer's disease patients' amyloid plaques. Iron misregulation in the brain is linked to the overexpression of APP protein, which is directly related to amyloid-β aggregation in Alzheimer’s disease. The APP 5'-UTR region encodes a functional iron-responsive element (IRE) stem-loop that represents a potential target for modulating amyloid production. Targeted regulation of APP gene expression through the modulation of 5’-UTR sequence function represents a novel approach for the potential treatment of AD because altering APP translation can be used to improve both the protective brain iron balance and provide anti-amyloid efficacy. The molecular docking analysis of APP IRE RNA with eukaryotic translation initiation factors yields several models exhibiting substantial binding affinity. The finding revealed that the interaction involved a set of functionally active residues within the binding sites of eIF4F. Notably, APP IRE RNA and eIF4F interaction were stabilized by multiple hydrogen bonds with residues of APP IRE RNA and eIF4F. It was evident that APP IRE RNA exhibited a structural complementarity that tightly fit within binding pockets of eIF4F. The simulation studies further revealed the stability of the complexes formed between RNA and eIF4F, which is crucial for assessing the strength of these interactions and subsequent roles in the pathophysiology of Alzheimer’s disease. In addition, MD simulations would capture conformational changes in the IRE RNA and protein molecules during their interactions, illustrating the mechanism of interaction, conformational change, and unbinding events and how it may affect aggregation propensity and subsequent therapeutic implications. Our binding studies correlated well with the translation efficiency of APP mRNA. Overall, the outcome of this study suggests that the genomic modification and/or inhibiting the expression of amyloid protein by targeting APP IRE RNA can be a viable strategy to identify potential therapeutic targets for AD and subsequently be exploited for developing novel therapeutic approaches.

Keywords: Alzheimer's disease, Protein-RNA interaction analysis, molecular docking simulations, conformational dynamics, binding stability, binding kinetics, protein synthesis.

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Authors: Aneta Nitsch-Osuch, Sylwia Dyk, Izabela Gołebiak

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Background. Since 2014 the pertussis vaccine is recommended to Polish health care workers who have close contacts with infants. Although this recommendation is implemented into the National Immunization Programme, its realization has remained unknown. The Purpose: The aim of the study, conducted at the department of Social Medicine and Public Health (Medical University of Warsaw, Poland), was to describe a perception, knowledge and coverage rates regarding pertussis vaccination among nursing staff. According to the authors' knowledge, it was the first study related to this topic in our country. Material and Methods: A total number of 543 nurses who work at pediatric or neonatal wards was included into the study (501 women and 42 men), average age was 47 years. All nurses were asked to fulfill the anonymous survey, previously validated. Results: 1. Coverage rates: The analysis of results revealed that only 4% of responders reported they were vaccinated with Tdpa within past 10 years, while 8% declared they would plan the vaccine in the future. 35% of responders would consider the Tdpa vaccine whether there is some kind of the reimbursement. 2. Perception and knowledge of the disease and vaccination: The majority (82%) of nurses did not recognize pertussis as a re-emerging infectious disease. 54% of them believed that obligatory vaccinations in the childhood protect against the disease and the protection is a life-long one. Only 15% of nurses considered pertussis as a possible nosocomial infection. The current epidemiology of the disease was known to 6% of responders, while 24% of them were familiar with pertussis vaccination schedules for infants, children and adolescents, but only 9% of responders knew that adults older than 19 years are recommended to be vaccinated with Tdpa every 10 years. Many nurses (82%) would expect more educational activities related to pertussis and methods of its prophylaxis. Conclusions: The pertussis vaccine coverage rate among Polish nurses is extremely low. This is a result of not enough knowledge about the disease and its prevention. Educational activities addressed to health care workers and reimbursement of the pertussis vaccine are required to improve awareness and increase of vaccine coverage rates in the future.

Keywords: coverage, nurse, pertussis, vaccine

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Authors: Ozlem Oral, Emre Taskin, Aysel Yuce, Serap Dokmeci, Devrim Gozuacik

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Autophagy is an evolutionary conserved lysosome-dependent catabolic pathway, responsible for the degradation of long-lived proteins, abnormal aggregates and damaged organelles which cannot be degraded by the ubiquitin-proteasome system. Lysosomes degrade the substrates through the activity of lysosomal hydrolases and lysosomal membrane-bound proteins. Mutations in the coding region of these proteins cause malfunctional lysosomes, which contributes to the pathogenesis of lysosomal storage diseases. Gaucher disease is a lysosomal storage disease resulting from the mutation of a lysosomal membrane-associated glycoprotein called glucocerebrosidase and its cofactor saposin C. The disease leads to intracellular accumulation of glucosylceramide and other glycolipids. Because of the essential role of lysosomes in autophagic degradation, Gaucher disease may directly be linked to this pathway. In this study, we investigated the expression of autophagy and/or lysosome-related genes and proteins in fibroblast cells isolated from patients with different mutations. We carried out confocal microscopy analysis and examined autophagic flux by utilizing the differential pH sensitivities of RFP and GFP in mRFP-GFP-LC3 probe. We also evaluated lysosomal pH by active lysosome staining and lysosomal enzyme activity. Beside lysosomes, we also performed proteasomal activity and cell death analysis in patient samples. Our data showed significant attenuation in the expression of key autophagy-related genes and accumulation of their proteins in mutant cells. We found decreased the ability of autophagosomes to fuse with lysosomes, associated with elevated lysosomal pH and reduced lysosomal enzyme activity. Proteasomal degradation and cell death analysis showed reduced proteolytic activity of the proteasome, which consequently leads to increased susceptibility to cell death. Our data indicate that the major degradation pathways are affected by multifunctional lysosomes in mutant patient cells and may underlie in the mechanism of clinical severity of Gaucher patients. (This project is supported by TUBITAK-3501-National Young Researchers Career Development Program, Project No: 112T130).

Keywords: autophagy, Gaucher's disease, glucocerebrosidase, mutant fibroblasts

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Authors: John Acord, Ankita Batla, Kiran Khepar, Maude Schmidt, Charlotte Allen, Russ Bradford

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Objectives: Despite the availability oftreatment options, Parkinson’s disease (PD) continues to impact heavily on a patient’s quality of life (QoL), as many symptoms that bother the patient remain unexplored and untreated in clinical settings. The aims of this research were to understand the burden of PDsymptoms from a patient perspective, particularly those which are the most persistent and debilitating, and to determine if current treatments and treatment algorithms adequately focus on their resolution. Methods: A13-question, online, patient-reported survey was created based on the MDS-Unified Parkinson’s Disease Rating Scale (MDS-UPDRS)and symptoms listed on Parkinson’s Disease Patient Advocacy Groups websites, and then validated by 10 Parkinson’s patients. In the survey, patients were asked to choose both their most common and their most bothersome symptoms, whether they had received treatment for those and, if so, had it been effective in resolving those symptoms. Results: The most bothersome symptoms reported by the 111 participants who completed the survey were sleep problems (61%), feeling tired (56%), slowness of movements (54%), and pain in some parts of the body (49%). However, while 86% of patients reported receiving dopamine or dopamine like drugs to treat their PD, far fewer reported receiving targeted therapies for additional symptoms. For example, of the patients who reported having sleep problems, only 33% received some form of treatment for this symptom. This was also true for feeling tired (30% received treatment for this symptom), slowness of movements (62% received treatment for this symptom), and pain in some parts of the body (61% received treatment for this symptom). Additionally, 65% of patients reported that the symptoms they experienced were not adequately controlled by the treatments they received, and 9% reported that their current treatments had no effect on their symptoms whatsoever. Conclusion: The survey outcomes highlight that the majority of patients involved in the study received treatment focused on their disease, however, symptom-based treatments were less well represented. Consequently, patient-reported symptoms such as sleep problems and feeling tired tended to receive more fragmented intervention than ‘classical’ PD symptoms, such as slowness of movement, even though they were reported as being amongst the most bothersome symptoms for patients. This research highlights the need to explore symptom burden from the patient’s perspective and offer Customised treatment/support for both motor and non-motor symptoms maximize patients’ quality of life.

Keywords: survey, patient reported symptom burden, unmet needs, parkinson's disease

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