Search results for: disease diagnosis

Authors: Ali Berkan Ural

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This paper presents the analysis, evaluation, and pre-diagnosis of early stage breast based diagnostic problems (breast cancer, nodulesorlumps) by Computer Aided Diagnosing (CAD) system from mammogram radiological images. According to the statistics, the time factor is crucial to discover the disease in the patient (especially in women) as possible as early and fast. In the study, a new algorithm is developed using advanced image processing and deep learning method to detect and classify the problem at earlystagewithmoreaccuracy. This system first works with image processing methods (Image acquisition, Noiseremoval, Region Growing Segmentation, Morphological Operations, Breast BorderExtraction, Advanced Segmentation, ObtainingRegion Of Interests (ROIs), etc.) and segments the area of interest of the breast and then analyzes these partly obtained area for cancer detection/lumps in order to diagnosis the disease. After segmentation, with using the Spectrogramimages, 5 different deep learning based methods (specified Convolutional Neural Network (CNN) basedAlexNet, ResNet50, VGG16, DenseNet, Xception) are applied to classify the breast based problems.

Keywords: computer aided diagnosis, breast cancer, region growing, segmentation, deep learning

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Authors: Meriche Hacene

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Introduction: Celiac disease (CD) is a chronic immune-mediated enteropathy triggered by gluten found in wheat or oats or rye. Celiac disease is associated with the HLA-DQ2 and HLA-DQ8 susceptibility alleles. This association with the HLA DQ2/DQ8 molecules confirmed the responsibility of genetic factors that intervene in the triggering of the autoimmune process of this condition. Objective: To evaluate the results of HLA DQ2 and HLA DQ8 typing of 40 patients suspected of having CD by PCR-SSP (Polymerase Chain Reaction Sequence Specific Primers). Material and method : 40 patients suspected of celiac disease with IgA transglutaminase serology (-) and duodenal biopsy (+). HLADR/DQ PCR-SSP (fluogen-innotrain) typing was carried out. Results : The average age of adults was 40 years, children: 4 years, the sex ratio was 1M/3F. In our patients the HLA DQ2 allele is found with a frequency of 75%, the DQ8 with a frequency of 25%, 17.5% were HLA-DQ2 homozygous and 15% were HLADQ2/HLADQ8. In our series, HLADQ2, DQ8 are found in almost all patients with a frequency of 95%. 30% of patients in our study had associated positivity of HLA-DRB3, DRB4 or DRB5 alleles. Conclusion : A high prevalence of positivity of HLADQ2 alleles at the expense of HLA DQ8 was found, which is consistent with literature data. These molecules constitute an additional marker for screening and diagnosis of CD.

Keywords: HLA typing, coeliac disease, HLA DQ 2, HLA DQ8

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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

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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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Authors: Yogita Tulsian, R. S. Gupta, K. F. Laserson

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Background: Delays in the diagnosis and treatment of TB facilitates disease transmission in the community, so we conducted a study to evaluate the burden of and risk factors for delay in TB diagnosis and initiation of TB treatment among patients in the private and public sectors in Udaipur district, Rajasthan, India. Methods: A retrospective cohort study was conducted among 100 new sputum-positive TB. Patients were interviewed in the intensive phase of treatment September 2013-November 2013 Long total diagnosis delay (TDD) was defined as a time interval between first symptom to confirmed diagnosis > 30 days. Long health treatment delay (HTD) was defined as a time interval between confirmed diagnosis to treatment initiation > 7 days. Results: We observed a median TDD of 55 days (range: 7-136 days) in the public sector and of 92 days (11-380 days) in the private sector. Long TDD in the private sector was significantly associated with middle-higher socio-economic status (Risk Ratio (RR): 2;95% CI: 1.3-3). The reasons reported from the private sector for long TDD were suspect TB patients not advised for sputum examination (RR: 42; 95% CI:2.6-660), practise of self-medication (RR: 17.4; 95% CI: 1.1-267), or lack of awareness (RR: 9.7;95% CI: 0.6-145). The median HTD in the public sector was 3 days (range: 0-14 days), and in the private sector, 2 days (range: 0-11 days) (non-significant difference). Conclusions: Long TDD in private sector may be improved through sputum referral for all suspect TB cases and better education to all regarding TB.

Keywords: diagnosis delay, treatment delay, privatesector, public sector

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Authors: Behnam Shakerian, Negin Razavi

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The pathogenesis of coronary artery disease is multifactorial. The epicardial fat pad is a localized fat depot lying between the myocardium and the visceral layer of the pericardium. The mechanisms through which epicardial fat pad can cause atherosclerosis are complex. The epicardial fat pad can surround the coronary arteries and contributes to the development and progression of coronary artery disease. Methods: we selected 50 patients who underwent coronary artery angiography for the evaluation of coronary artery disease that results were positive for coronary artery disease. All patients underwent an echocardiographic examination after coronary angiography to measure epicardial fat pad thickness. The epicardial fat pad was defined as an echo-free space between the myocardium's outer wall and the pericardium's visceral layer. Results: The epicardial fat pad was measured on the right ventricle apex in 46 patients. Sixty- five percent of the studied patients were male. The most common vessel with stenosis was the left anterior descending artery. A significant correlation was observed between epicardial fat pad thickness and the severity of coronary artery disease. Discussions: The epicardial fat pad provides a horizon on the pathophysiology of cardiovascular diseases. It directly contributes to the development and progression of coronary artery disease by causing inflammation and endothelial damage. Further investigations are needed to determine whether medical treatment can reduce the mass of epicardial fat pad and can help to improve atherosclerosis. Conclusion: The epicardial fat pad measurement could be used as an indicator of coronary arteries’ atherosclerosis. Therefore, thickness measurement of the epicardial fat pad in the clinical practice could be of assistance in identifying patients at risk and if required, undergoing supplementary diagnosis with coronary angiography.

Keywords: epicardial, fat pad, coronary artery disease, echocardiography

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Authors: Assiya Madenovna Borsynbayeva, Kairat Altynbekovich Turgenbayev, Nikolay Petrovich Ivanov

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In this article presents the results of rapid diagnostics of tuberculosis in comparison with classical bacteriological method. The proposed method of rapid diagnosis of tuberculosis than bacteriological method allows shortening the time of diagnosis to 7 days, to visualize the growth of mycobacteria in the semi-liquid medium and differentiate the type of mycobacterium. Fast definition of Mycobacterium tuberculosis and its derivatives in the culture medium is a new and promising direction in the diagnosis of tuberculosis.

Keywords: animal diagnosis of tuberculosis, bacteriological diagnostics, antigen, specific antibodies, immunological reaction

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Authors: Viacheslav Sushko, Viktor Sushko

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Pre-cancerous breast diseases are pathological changes that precede the appearance of adenocarcinoma. The most common benign breast disease is mastopathy. We examined the life and disease history of 114 women aged 58-69 who were diagnosed with adenocarcinoma of the breast at different stages of development. They filled out the Reeder Scale to determine the level of stress. The results of the study revealed that 62 of them had mastopathy at the age of 30-45 years old. These women refused surgical treatment for mastopathy. Five to six years before their diagnosis of adenocarcinoma of the mammary gland, 84 women had experienced severe stress (death of a beloved close relative, torture accompanied by rape, prolonged stay in extreme conditions (under bombardment and bombardment). In the assessment of data from completed Reeder scales, 114 women had a high level of mental stress, with a score from 1-1.72. The 84 women who suffered from severe stress showed overeating or a significant decrease in food intake, insomnia, apathy, increased irritability and restlessness, loss of interest in sexual relationships, forgetfulness, difficulty in performing routine work, prolonged uncontrollable headaches, unexplained fatigue, heart pain, reduced capacity for work. In conclusion, it is important to provide psychotherapy for breast cancer patients as the diagnosis, and the different stages of treatment are very stressful. It is also advisable to see a psychiatrist at an early stage and prevent distress and treat precancerous breast disease.

Keywords: breast cancer, distress, mastopathy, severe stress

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Authors: Camilo Andres Agudelo-Velez, Lina María Martinez-Sanchez, Natalia Perilla-Hernandez, Maria De Los Angeles Rodriguez-Gazquez, Felipe Hernandez-Restrepo, Dayana Andrea Quintero-Moreno, Camilo Ruiz-Mejia, Isabel Cristina Ortiz-Trujillo, Monica Maria Zuluaga-Quintero

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Chronic obstructive pulmonary disease is common condition, characterized by a persistent blockage of airflow, partially reversible and progressive, that represents 5% of total deaths around the world, and it is expected to become the third leading cause of death by 2030. Objective: To establish the clinical and epidemiological profile of patients with chronic obstructive pulmonary disease in a medical institution from the city of Medellin, Colombia. Methods: A cross-sectional study was performed, with a sample of 50 patients with a diagnosis of chronic obstructive pulmonary disease in a private institution in Medellin, during 2015. The software SPSS vr. 20 was used for the statistical analysis. For the quantitative variables, averages, standard deviations, and maximun and minimun values were calculated, while for ordinal and nominal qualitative variables, proportions were estimated. Results: The average age was 73.5±9.3 years, 52% of the patients were women, 50% of them had retired, 46% ere married and 80% lived in the city of Medellín. The mean time of diagnosis was 7.8±1.3 years and 100% of the patients were treated at the internal medicine service. The most common clinical features were: 36% were classified as class D for the disease, 34% had a FEV1 <30%, 88% had a history of smoking and 52% had oxygen therapy at home. Conclusion: It was found that class D was the most common, and the majority of the patients had a history of smoking, indicating the need to strengthen promotion and prevention strategies in this regard.

Keywords: pulmonary disease, chronic obstructive, pulmonary medicine, oxygen inhalation therapy

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Authors: Retno Supriyanti, Ays Rahmadian Subhi, Yogi Ramadhani, Haris B. Widodo

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Alzheimer is one type of disease in the elderly that may occur in the world. The severity of the Alzheimer can be measured using a scale called Clinical Dementia Rating (CDR) based on a doctor's diagnosis of the patient's condition. Currently, diagnosis of Alzheimer often uses MRI machine, to know the condition of part of the brain called Hippocampus and Ventricle. MRI image itself consists of 3 slices, namely Coronal, Sagittal and Axial. In this paper, we discussed the measurement of the area of the ventricle especially in the Coronal slice based on the severity level referring to the CDR value. We use Active Contour method to segment the ventricle’s region, therefore that ventricle’s area can be calculated automatically. The results show that this method can be used for further development in the automatic diagnosis of Alzheimer.

Keywords: Alzheimer, CDR, coronal, ventricle, active contour

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Authors: Barun K. De

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Acquired immunodeficiency syndrome (AIDS) is caused by two types of human immunodeficiency viruses, collectively designated HIV. HIV infection is spreading globally particularly in developing countries. Before an individual is diagnosed with HIV, the disease goes through different phases. First there is an acute early phase that is followed by an established or chronic phase. Subsequently, there is a latency period after which the individual becomes immunodeficient. It is in the acute phase that an individual is highly infectious due to a high viral load. Presently, HIV diagnosis involves use of tests that do not detect the acute phase infection during which both the viral RNA and p24 antigen are expressed. Instead, these less sensitive tests detect antibodies to viral antigens which are typically sero-converted later in the disease process following acute infection. These antibodies are detected in both asymptomatic HIV-infected individuals as well as AIDS patients. Studies indicate that early diagnosis and treatment of HIV infection can reduce medical costs, improve survival, and reduce spreading of infection to new uninfected partners. Newer 4th generation combination antigen/antibody tests are highly sensitive and specific for detection of acute and established HIV infection (HIV1 and HIV2) enabling immediate linkage to care. The CDC (Center of Disease Control, USA) recently recommended an algorithm involving three different tests to screen and diagnose acute and established infections of HIV-1 and HIV-2 in a general population. Initially a 4th generation combo test detects a viral antigen p24 and specific antibodies against HIV -1 and HIV-2 envelope proteins. If the test is positive it is followed by a second test known as a differentiation assay which detects antibodies against specific HIV-1 and HIV-2 envelope proteins confirming established infection of HIV-1 or HIV-2. However if it is negative then another test is performed that measures viral load confirming an acute HIV-1 infection. Screening results of a Phoenix area population detected 0.3% new HIV infections among which 32.4% were acute cases. Studies in the U.S. indicate that this algorithm effectively reduces HIV infection through immediate treatment and education following diagnosis.

Keywords: new algorithm, HIV, diagnosis, infection

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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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Authors: Sadia Munir

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Preeclampsia is the contributor to the worldwide maternal mortality of approximately 100,000 deaths a year. It complicates about 10% of all pregnancies and is the first cause of maternal admission to intensive care units. Predicting preeclampsia is a major challenge in obstetrics. More importantly, no major progress has been achieved in the treatment of preeclampsia. As placenta is the main cause of the disease, the only way to treat the disease is to extract placental and deliver the baby. In developed countries, the cost of an average case of preeclampsia is estimated at £9000. Interestingly, preeclampsia may have an impact on the health of mother or infant, beyond the pregnancy. We performed a systematic search of PubMed including the combination of terms such as preeclampsia, biomarkers, treatment, hypoxia, inflammation, oxidative stress, vascular endothelial growth factor A, activin A, inhibin A, placental growth factor, transforming growth factor β-1, Nodal, placenta, trophoblast cells, microRNAs. In this review, we have summarized current knowledge on the identification of potential biomarkers for the diagnosis of preeclampsia. Although these studies show promising data in early diagnosis of preeclampsia, the current value of these factors as biomarkers, for the precise prediction of preeclampsia, has its limitation. Therefore, future studies need to be done to support some of the very promising and interesting data to develop affordable and widely available tests for early detection and treatment of preeclampsia.

Keywords: activin, biomarkers, growth factors, miroRNA

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Authors: Abdollah Sobhani, Hossein Vaseghi-Dodaran

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Proteomics is defined as the study of the component of a cell, tissue and biological fluid. This technique has the potential to identify protein biomarkers of a disease states. In this study which was performed on bovine ovarian follicular cysts (BOFC), eight proteins are over expressed in BOFC that these proteins could be useful biomarkers for BOFC. The difference between serum proteome pattern cows affected by postpartum endometritis with healthy cows revealed that concentrations orosomucoid was decreased in endometritis. The comparison proteome of brucella abortus between laboratory adapted strains and clinical isolates could be useful to better understand this disease and vaccine development. Proteomics experiments identified new proteins and pathways that may be important in future hypothesis-driven studies of glucocorticoid-induced immunosuppression. Understanding the molecular mechanisms of effective parameters on male fertility is essential for obtaining high reproductive efficiency by decreasing cost and time. The investigations on proteome of high fertility spermatozoa indicated that expression of some proteins such as casein kinase 2 (CKII) prime poly peptide and tyrosine kinase in high fertility spermatozoa was higher compared to low fertility spermatozoa. Also, some evidence has indicated that variation in protein types and amounts in seminal fluid regulates fertility indexes in dairy bull. In conclusion, proteomics is a useful technique for discovering drugs, vaccine development, and diagnosis disease by biomarkers and improvement of reproduction efficiency.

Keywords: proteomics, reproduction, biomarker, immunity

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Authors: Baburao Ganpat Apte, Gajodhar

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Introduction: diopathic Parkinson’s disease (PD) is the most common neurodegenerative disorder. Early PD may present a diagnostic challenge with broad differential diagnoses that are not associated with striatal dopamine deficiency. This test was performed by using special type of radioactive precursor which was made available through our logistics. 131I-TOPA L-6-[131I] Iodo-3,4-Trihydroxyphenylalnine (131I -TOPA) is a positron emission tomography (PET) agent that measures the uptake of dopamine precursors for assessment of presynaptic dopaminergic integrity and has been shown to accurately reflect the sign of nervous mind going in patients suffers from monoaminergic disturbances in PD. Both qualitative and quantitative analyses of the scans were performed. Therefore, the early clinical diagnosis alone may be accurate and this reinforces the importance of functional imaging targeting the patholigically of the disease process. The patient’s medical records were then assessed for length of follow-up, response to levotopa, clinical course of sickness, and usually though of symptoms at time of 131I -TOPA PET. A respective analysis was carried out for all patients that gone through 131I -TOPA PET brain scan for motor symptoms suspicious for PD between 2000 - 2006. The eventual diagnosis by the referring neurologist, movement therapist, physiotherapist, was used as the accurate measurements in standard for further analysis. In this study, our goal to illustrate our local experience to determine the accuracy of 131I -TOPA PET for diagnosis of PD. We studied a total of 48 patients. Of the 25 scans, it found that one was a false negative, 40 were true positives, and 7 were true negatives. The resultant values are Sensitivity 90.4% (95% CI: 100%-71.3%), Specificity 100% (92% CI: 100%-58.0%), PPV 100% (91% CI 100%-75.7%), and NPV 80.5% (95% CI: 92.5%-48.5%). Result: Twenty-three patients were found in the initial query, and 1 were excluded (2 uncertain diagnosis, 2 inadequate follow-up). Twenty-eight patients (28 scans) remained with 15 males (62%) and 8 females (30%). All the patients had a clinical follow-up of at least 3 years, however the median length of follow-up was 5.5 years (range: 2-8 years). The median age at scan time was 51.2 years (range: 35-75)

Keywords: 18F-TOPA, petct, parkinson’s disease, cardiac

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Authors: Palash Dutta

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More frequently uncertainties are encountered in medical diagnosis and therefore it is the most important and interesting area of applications of fuzzy set theory. In this present study, an attempt has been made to extend Sanchez’s approach for medical diagnosis via interval valued picture fuzzy sets and exhibit the technique with suitable case studies. In this article, it is observed that a refusal can be expressed in the databases concerning the examined objects. The technique is performing diagnosis on the basis of distance measures and as a result, this approach makes it possible to introduce weights of all symptoms and consequently patient can be diagnosed directly.

Keywords: medical diagnosis, uncertainty, fuzzy set, picture fuzzy set, interval valued picture fuzzy set

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Authors: Renae McNair

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Subjective well-being levels were assessed in individuals diagnosed with an autoimmune disease. The current exploratory analysis sought to examine two factors that impact subjective well-being in individuals diagnosed with a chronic health condition. The two factors, resilience, and rumination, were assessed as possible moderators in self-reported levels of subjective well-being were measured. The importance of understanding the psychological state of perceived well-being in an individual diagnosed with an autoimmune disease is important given the impact of the level of subjective well-being on life longevity. In previous research, higher levels of subjective well-being are correlated with longer life longevity, including those individuals who have been diagnosed with an autoimmune disease. Conversely, individuals who report higher levels of negative affect have a shorter length of life longevity. According to the Center for Disease Control (CDC) and a report from the National Health Council, currently, 8-10% of individuals in the United States have been diagnosed with at least one autoimmune disease. Although treatment plans are in place to help manage the physical effects of disease, the psychological state of the person impacts life longevity. Resilience and rumination impact subjective well-being as an outcome in individuals diagnosed with an autoimmune disease. Resilience is the ability to adjust or adapt effectively and positively to unfavorable life conditions or events. Resilience acts as a protective factor in life, allowing those who face adversity to successfully adapt, regardless of the health diagnosis. Rumination is the worry or dwelling on the negative aspects of a given situation. Rumination interrupts the adaptive response, leading to a decrease in well-being. The relationship between resilience and subjective well-being were examined correlated with higher levels of resilience and higher levels of self-reported subjective well-being.

Keywords: subjective well-being, rumination, resilience, autoimmune disease

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Authors: Soumaya Mrabet, Taieb Ach, Imen Akkari, Amira Atig, Neirouz Ghannouchi, Koussay Ach, Elhem Ben Jazia

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Introduction: Celiac disease (CD) is an immune-mediated small intestinal disorder that occurs in genetically susceptible people. It is significantly associated with other autoimmune disorders represented mainly by type 1 diabetes and autoimmune dysthyroidism. The aim of our study is to determine the prevalence and the type of the various autoimmune diseases associated with CD in adult patients. Material and methods: This is a retrospective study including patients diagnosed with CD, explored in Internal Medicine, Gastroenterology and Endocrinology and Diabetology Departments of the Farhat Hached University Hospital, between January 2005 and January 2016. The diagnosis of CD was confirmed by serological tests and duodenal biopsy. The screening of autoimmune diseases was based on physical examination, biological and serological tests. Results: Sixty five patients with a female predominance were included, 48women (73.8%) and 17 men (26.2%). The mean age was 31.8 years (17-75). A family history of CD or other autoimmune diseases was present in 5 and 10 patients respectively. Clinical presentation of CD was made by recurrent abdominal pain in 49 cases, diarrhea in 29 cases, bloating in 17 cases, constipation in 25 cases and vomiting in 8 cases. Autoimmune diseases associated with CD were found in 30 cases (46.1%): type 1 diabetes in 15 patients attested by the positivity of anti-GAD antibodies in 11 cases and anti-IA2 in 4 cases, Hashimoto thyroiditis in 8 cases confirmed by the positivity of anti-TPO antibodies, Addison's disease in 2 patients, Anemia of Biermer in 2 patients, autoimmune hepatitis, Systemic erythematosus lupus, Gougerot Sjögren syndrome, rheumatoid arthritis, Vitiligo and antiphospholipid syndrome in one patient each. CD was associated with more than one autoimmune disease defining multiple autoimmune syndrome in 2 female patients. The first patient had Basedow disease, Addison disease and type 1 diabetes. The second patient had systemic erythematosus lupus and Gougerot Sjögren syndrome. Conclusion: In our study autoimmune diseases were associated with CD in 46.1% of cases and were dominated by diabetes and dysthroidism. After establishing the diagnosis of CD the search of associated autoimmune diseases is necessary in order to avoid any therapeutic delay which can alter the prognosis of the patient.

Keywords: association, autoimmune thyroiditis, celiac disease, diabetes

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Authors: Jinan Fiaidhi, Sabah Mohammed, Petros Zezos

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Capsule endoscopy (CE) is an established noninvasive diagnostic modality in investigating small bowel disease. CE has a pivotal role in assessing patients with suspected bleeding or identifying evidence of active Crohn's disease in the small bowel. However, CE produces lengthy videos with at least eighty thousand frames, with a frequency rate of 2 frames per second. Gastroenterologists cannot dedicate 8 to 15 hours to reading the CE video frames to arrive at a diagnosis. This is why the issue of analyzing CE videos based on modern artificial intelligence techniques becomes a necessity. However, machine learning, including deep learning, has failed to report robust results because of the lack of large samples to train its neural nets. In this paper, we are describing a thick data approach that learns from a few anchor images. We are using sound datasets like KVASIR and CrohnIPI to filter candidate frames that include interesting anomalies in any CE video. We are identifying candidate frames based on feature extraction to provide representative measures of the anomaly, like the size of the anomaly and the color contrast compared to the image background, and later feed these features to a decision tree that can classify the candidate frames as having a condition like the Crohn's Disease. Our thick data approach reported accuracy of detecting Crohn's Disease based on the availability of ulcer areas at the candidate frames for KVASIR was 89.9% and for the CrohnIPI was 83.3%. We are continuing our research to fine-tune our approach by adding more thick data methods for enhancing diagnosis accuracy.

Keywords: thick data analytics, capsule endoscopy, Crohn’s disease, siamese neural network, decision tree

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Authors: Tansa Nisan Gunerhan

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Dementia comes in different forms, including Alzheimer's disease. The most common dementia diagnosis among elderly individuals is Alzheimer's disease. On average, for patients with Alzheimer’s, life expectancy is around 4-8 years after the diagnosis; however, expectancy can go as high as twenty years or more, depending on the shrinkage of the brain. Normally, along with aging, the brain shrinks at some level but doesn’t lose a vast amount of neurons. However, Alzheimer's patients' neurons are destroyed rapidly; hence problems with loss of memory, communication, and other metabolic activities begin. The toxic changes in the brain affect the stability of the neurons. Beta-amyloid and tau are two proteins that are believed to play a role in the development of Alzheimer's disease through their toxic changes. Beta-amyloid is a protein that is produced in the brain and is normally broken down and removed from the body. However, in people with Alzheimer's disease, the production of beta-amyloid increases, and it begins to accumulate in the brain. These plaques are thought to disrupt communication between nerve cells and may contribute to the death of brain cells. Tau is a protein that helps to stabilize microtubules, which are essential for the transportation of nutrients and other substances within brain cells. In people with Alzheimer's disease, tau becomes abnormal and begins to accumulate inside brain cells, forming neurofibrillary tangles. These tangles disrupt the normal functioning of brain cells and may contribute to their death, forming amyloid plaques which are deposits of a protein called amyloid-beta that build up between nerve cells in the brain. The accumulation of amyloid plaques and neurofibrillary tangles in the brain is thought to contribute to the shrinkage of brain tissue. As the brain shrinks, the size of the brain may decrease, leading to a reduction in brain volume. Brain atrophy in Alzheimer's disease is often accompanied by changes in the structure and function of brain cells and the connections between them, leading to a decline in brain function. These toxic changes that accumulate can cause symptoms such as memory loss, difficulty with thinking and problem-solving, and changes in behavior and personality.

Keywords: Alzheimer, amyloid-beta, brain atrophy, neuron, shrinkage

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Authors: Abhishek Oswal

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Background: Inconsistencies between the guidelines for childhood asthma can pose a diagnostic challenge to clinicians. NICE guidelines are the most commonly followed guidelines in primary care in the UK; they state that to be diagnosed with asthma, a child must be more than 5 years old and must have objective evidence of the disease. When diagnoses are coded in general practice (GP), these guidelines may be superseded by communications from secondary care. Hence it is imperative that diagnoses are correct, as per up to date guidelines and evidence, as this affects follow up and management both in primary and secondary care. Methods: A snapshot audit at a general practice surgery was undertaken of children (less than 16 years old) with a coded diagnosis of 'asthma', to review the age at diagnosis and whether any objective evidence of asthma was documented at diagnosis. 50 cases of asthma in children presenting to the emergency department (ED) were then audited to review the age at presentation, whether there was evidence of previous asthma diagnosis and whether the patient was discharged from ED. A repeat audit is planned in ED this winter. Results: In a GP surgery, there were 83 coded cases of asthma in children. 51 children (61%) were diagnosed under 5, with 9 children (11%) who had objective evidence of asthma documented at diagnosis. In ED, 50 cases were collected, of which 4 were excluded as they were referred to the other services, or for incorrect coding. Of the 46 remaining, 27 diagnoses confirmed to NICE guidelines (59%). 33 children (72%) were discharged from ED. Discussion: The most likely reason for the apparent low rate of a correct diagnosis is the significant challenge of obtaining objective evidence of asthma in children. There were a number of patients who were diagnosed from secondary care services and then coded as 'asthma' in GP, without having objective documented evidence. The electronic patient record (EPR) system used in our emergency department (ED) did not allow coding of 'suspected diagnosis' or of 'viral induced wheeze'. This may have led to incorrect diagnoses coded in primary care, of children who had no confirmed diagnosis of asthma. We look forward to the re-audit, as the EPR system has been updated to allow suspected diagnoses. In contrast to the NICE guidelines used here, British Thoracic Society (BTS) guidelines allow for a trial of treatment and subsequent confirmation of diagnosis without objective evidence. It is possible that some of the cases which have been classified as incorrect in this audit may still meet other guidelines. Conclusion: The diagnosis of asthma in children is challenging. Incorrect diagnoses may be related to clinical pressures and the provision of services to allow compliance with NICE guidelines. Consensus statements between the various groups would also aid the decision-making process and diagnostic dilemmas that clinicians face, to allow more consistent care of the patient.

Keywords: asthma, diagnosis, primary care, emergency department, guidelines, audit

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Authors: Avik Banerjee, Kavita Saggar

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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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Authors: Manisha, Manisha Mathur, Jay K. Desai, Shesh Asopa, Manisha Mehra

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The present study was carried out for the comprehensive analysis of lumpy skin disease (LSD) in cattle and to elucidate the histopathology of vital organs in natural outbreaks. Lumpy skin disease (LSD) is a viral infection that primarily affects cattle. It is caused by a Capri pox virus and is characterized by the formation of skin nodules or lesions. For this study, a postmortem of 20 cows who died of Lumpy skin disease in different regions of Rajasthan was conducted. This study aimed to examine a cow's external and internal organs to confirm if lumpy skin disease was the cause of death. Accurate diagnosis is essential for improving disease surveillance, understanding the disease's progression, and informing control measures. Pathological examinations reveal virus-induced changes across organs, while histopathological analyses provide crucial insights into the disease's pathogenesis, aiding in the development of advanced diagnostics and effective prevention strategies. Histopathological examination of nodular skin lesions revealed edema, hyperemia, acanthosis, severe hydropic degeneration/ballooning degeneration, and hyperkeratosis in the epidermis. In the lungs, congestion, oedema, emphysema, and atelectasis were observed grossly. Microscopically changes were suggestive of interstitial pneumonia, suppurative pneumonia, bronchopneumonia post pneumonic fibrosis, and stage of resolution. Grossely liver showed congestion and necrotic foci microscopically in most of the cases, and the liver showed acute viral hepatitis. Microscopically in kidneys, multifocal interstitial nephritis was observed. There was marked interstitial inflammation and zonal fibrosis with cystically dilated tubules and bowman's capsules. Microscopically, most of the heart tissue section showed normal histology with few sarcocysts in between cardiac muscles. In some cases, loss of cross striation, sarcoplasmic vacuolation, fregmentation, and disintegration of cardiac fibres were observed. The present study revealed the characteristic gross and histopathological changes in different organs in natural cases of lumpy skin disease. Further, the disease was confirmed based on the molecular diagnosis and transmission electron microscopy of capripox infection in the affected cattle in the study area.

Keywords: Capripoxvirus, lumpy skin disease, polymerage chain reaction, transmission electron microscopy

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Authors: Sanjeewa Seneviratne, Ian Campbell, Nina Scott, Ross Lawrenson

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Introduction: Indigenous Māori women experience a 60% higher breast cancer mortality rate compared with European women in New Zealand. We explored the impact of difference in the rate of screen detected breast cancer between Māori and European women on more advanced disease at diagnosis and lower survival in Māori women. Methods: All primary in-situ and invasive breast cancers diagnosed in screening age women (as defined by the New Zealand National Breast Cancer Screening Programme) between 1999 and 2012 in the Waikato area were identified from the Waikato Breast Cancer Register and the national screening database. Association between screen versus non-screen detection and cancer stage at diagnosis and survival were compared by ethnicity and socioeconomic deprivation. Results: Māori women had 50% higher odds of being diagnosed with more advance staged cancer compared with NZ European women, a half of which was explained by the lower rate of screen detected cancer in Māori women. Significantly lower breast cancer survival rates were observed for Māori compared with NZ European and most deprived compared with most affluent socioeconomic groups for symptomatically detected breast cancer. No significant survival differences by ethnicity or socioeconomic deprivation were observed for screen detected breast cancer. Conclusions: Low rate of screen detected breast cancer appears to be a major contributor for more advanced stage disease at diagnosis and lower breast cancer survival in Māori compared with NZ European women. Increasing screening participation for Māori has the potential to substantially reduce breast cancer mortality inequity between Māori and NZ European women.

Keywords: breast cancer, screening, ethnicity, inequity

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Authors: Asma Qudrat, Abid Ullah, Rafi Ullah, Ali Raza, Shah Zeb, Syed Ali Shan Ul-Haq, Shahkar Ahmed Shah, Attiya Hameed Khan, Saad Zaheer, Umama Qasim, Kiran Jamal, Zahoor khan

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Objectives: Coronary artery disease (CAD) is the major public health issue associated with high mortality and morbidity rate worldwide. Young patients with ACS have unique characteristics with different demographic profiles and risk factors. The precise diagnosis and early risk stratification is important in guiding treatment and predicting the prognosis of young patients with ACS. To evaluate the associated demographics, risk factors, and outcomes profile of ACS in young age patients. Methods: The research follow a retrospective design, the single centre study of patients diagnosis with the first event of ACS in young age (>18 and <40) were included. Data collection included demographic profiles, risk factors, and in-hospital outcomes of young ACS patients. The patient’s data was retrieved through Electronic Medical Records (EMR) of Peshawar Institute of Cardiology (PIC), and all characteristic were assessed. Results: In this study, 77% were male, and 23% were female patients. The risk factors were assessed with CAD and shown significant results (P < 0.01). The most common presentation was STEMI, with (45%) most in ACS young patients. The angiographic pattern showed single vessel disease (SVD) in 49%, double vessel disease (DVD) in 17% and triple vessel disease (TVD) was found in 10%, and Left Artery Disease (LAD) (54%) was present to be the most common involved artery. Conclusion: It is concluded that the male sex was predominant in ACS young age patients. SVD was the common coronary angiographic finding. Risk factors showed significant results towards CAD and common presentations.

Keywords: coronary artery disease, Non-ST elevation myocardial infarction, ST elevation myocardial infarction, unstable angina, acute coronary syndrome

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Authors: Aulanni’am Aulanni’am

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Incidence of Diabetes Mellitus (DM) progressively increasing it became a serious problem in Indonesia and it is a disease that government is priority to be addressed. The longer a person is suffering from diabetes the more likely to develop complications particularly diabetic patients who are not well maintained. Therefore, Incidence of Diabetes Mellitus needs to be done in the early diagnosis of pre-phase of the disease. In this pre-phase disease, already happening destruction of pancreatic beta cells and declining in beta cell function and the sign autoimmunity reactions associated with beta cell destruction. Type 1 DM is a multifactorial disease triggered by genetic and environmental factors, which leads to the destruction of pancreatic beta cells. Early marker of "beta cell autoreactivity" is the synthesis of autoantibodies against 65-kDa protein, which can be a molecule that can be detected early in the disease pathomechanism. The importance of early diagnosis of diabetic patients held in the phase of pre-disease is to determine the progression towards the onset of pancreatic beta cell destruction and take precautions. However, the price for this examination is very expensive ($ 150/ test), the anti-GAD65 abs examination cannot be carried out routinely in most or even in all laboratories in Indonesia. Therefore, production-based Rapid Test Recombinant Human Protein GAD65 with "Reverse Flow Immunchromatography Technique" in Indonesia is believed to reduce costs and improve the quality of care of patients with diabetes in Indonesia. Rapid Test Product innovation is very simple and suitable for screening and routine inspection of GAD65 autoantibodies. In the blood serum of patients with diabetes caused by autoimmunity, autoantibody-GAD65 is a major serologic marker to detect autoimmune reaction because their concentration level of stability.GAD65 autoantibodies can be found 10 years before clinical symptoms of diabetes. Early diagnosis is more focused to detect the presence autontibodi-GAD65 given specification and high sensitivity. Autoantibodies- GAD65 that circulates in the blood is a major indicator of the destruction of the islet cells of the pancreas. Results of research in collaboration with Biofarma has produced GAD65 autoantibodies based Rapid Test had conducted the soft launch of products and has been tested with the results of a sensitivity of 100 percent and a specificity between 90 and 96% compared with the gold standard (import product) which worked based on ELISA method.

Keywords: diabetes mellitus, GAD65 autoantibodies, rapid test, sensitivity, specificity

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Authors: A. K. Faizah, G. Vadamalai, S. K. Balasundram, W. L. Lim

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Pineapple (Ananas comosus) is a common crop in tropical and subtropical areas of the world. Malaysia once ranked as one of the top 3 pineapple producers in the world in the 60's and early 70's, after Hawaii and Brazil. Moreover, government’s recognition of the pineapple crop as one of priority commodities to be developed for the domestics and international markets in the National Agriculture Policy. However, pineapple industry in Malaysia still faces numerous challenges, one of which is the management of disease and pest. Red tip disease on pineapple was first recognized about 20 years ago in a commercial pineapple stand located in Simpang Renggam, Johor, Peninsular Malaysia. Since its discovery, there has been no confirmation on its causal agent of this disease. The epidemiology of red tip disease is still not fully understood. Nevertheless, the disease symptoms and the spread within the field seem to point toward viral infection. Bioassay test on nucleic acid extracted from the red tip-affected pineapple was done on Nicotiana tabacum cv. Coker by rubbing the extracted sap. Localised lesions were observed 3 weeks after inoculation. Negative staining of the fresh inoculated Nicotiana tabacum cv. Coker showed the presence of membrane-bound spherical particles with an average diameter of 94.25nm under transmission electron microscope. The shape and size of the particles were similar to tospovirus. SDS-PAGE analysis of partial purified virions from inoculated N. tabacum produced a strong and a faint protein bands with molecular mass of approximately 29 kDa and 55 kDa. Partial purified virions of symptomatic pineapple leaves from field showed bands with molecular mass of approximately 29 kDa, 39 kDa and 55kDa. These bands may indicate the nucleocapsid protein identity of tospovirus. Furthermore, a handheld sensor, Greenseeker, was used to detect red tip symptoms on pineapple non-destructively based on spectral reflectance, measured as Normalized Difference Vegetation Index (NDVI). Red tip severity was estimated and correlated with NDVI. Linear regression models were calibrated and tested developed in order to estimate red tip disease severity based on NDVI. Results showed a strong positive relationship between red tip disease severity and NDVI (r= 0.84).

Keywords: pineapple, diagnosis, virus, NDVI

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Authors: Ali Bayram, Remzi Yiğiter

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Objective: Alzheimer's disease (AD), the most common cause of dementia, is a progressive neurodegenerative disease. At present, diagnosis of AD is rather late in the disease. Therefore, we attempted to find peripheral biomarkers for the early diagnosis of AD. Herein, we conducted a study to investigate the unc-51 like autophagy activating kinase-1 (ULK1) mRNA expression levels in human peripheral blood mononuclear cells from patients with Alzheimer's disease. Method: To determine whether ULK1 gene expression are altered in AD patients, we measured their gene expression in human peripheral blood cell in 50 patients with AD and 50 age and gender matched healthy controls by quantitative real-time PCR technique. Results: We found that both ULK1 gene expression in peripheral blood cell were significantly decreased in patients with AD as compared with controls (p <0.05). Lower levels of ULK1 gene expression were significantly associated with the increased risk for AD. Conclusions: Serine/threonine-protein kinase involved in autophagy in response to starvation. Acts upstream of phosphatidylinositol 3-kinase PIK3C3 to regulate the formation of autophagophores, the precursors of autophagosomes. Part of regulatory feedback loops in autophagy: acts both as a downstream effector and negative regulator of mammalian target of rapamycin complex 1 (mTORC1) via interaction with RPTOR. Activated via phosphorylation by AMPK and also acts as a regulator of AMPK by mediating phosphorylation of AMPK subunits PRKAA1, PRKAB2, and PRKAG1, leading to negatively regulate AMPK activity. May phosphorylate ATG13/KIAA0652 and RPTOR; however such data need additional evidences. Plays a role early in neuronal differentiation and is required for granule cell axon formation. Alzheimer is the most common neurodegenerative disease. Our results provide useful information that the ULK1 gene expression is decreased in the neurodegeneration and AD patients with, indicating their possible systemic involvement in AD.

Keywords: Alzheimer’s sisease, ULK1, mRNA expression, RT-PCR

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Authors: Manal Al Bahri, Saif Al Mubahisi, Shamsa Al Shahaimi, Asma Al Qasabi, Jamal Al Aghbari

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Introduction: ILD is a common disease worldwide and in Oman. No previous Omani study was published regarding ILD prognosis based on baseline PFT results and other factors. This study aims to determine the severity of ILD by the baseline PFT, correlate between baseline PFT and outcome, and study other factors that influence disease mortality. Method: It is a retrospective cohort study; data was collected from January 2011 to December 2021 from electronic patient records (EPR). Means, Standard Deviations, frequencies, and Chi-square tests were used to examine the different variables in the study. Results: The total population of the study was 146 patients; 87 (59.6%) were females, and 59 (40.4%) were males. The median age was 59 years. Age at diagnosis, CVA, rheumatological disease, and baseline FVC were found to be statistically significant predictors of mortality .59.6% of the patients are diagnosed with IPF. Most of our study patients had mild disease based on baseline FVC. Death was higher with the more severe disease based on FVC. In mild disease (FVC >70%), 26.9% of the patients died. In moderate disease (FVC 50-69%),55.7% of the patients died, and in the severe group (FVC <50 %), 55.1% died. This was statistically significant with a P value of 0. 001. There is no statistically significant difference in the overall survival distribution between the different groups of DLCO. Conclusion: In our study, we found that ILD is more common among females, but death is more common among males. Based on baseline PFT, we can predict mortality by FVC level, as moderate to severe limitation is associated with a lower survival rate. DLCO was not a statistically significant parameter associated with mortality.

Keywords: PFT, ILD, FVC, DLCO, mortality

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Authors: Eyup Ozkan, Ozkan U. Nalbantoglu, Aycan Gundogdu, Mehmet Hora, A. Emre Onuk

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The human microbiome has been associated with cardiological conditions and this relationship is becoming to be defined beyond the gastrointestinal track. In this study, we investigate the alteration in circulatory microbiota in the context of Coronary Artery Disease (CAD). We received circulatory blood samples from suspected CAD patients and maintain 16S ribosomal RNA sequencing to identify each patient’s microbiome. It was found that Corynebacterium and Methanobacteria genera show statistically significant differences between healthy and CAD patients. The overall biodiversities between the groups were observed to be different revealed by machine learning classification models. We also achieve and demonstrate the performance of a diagnostic method using circulatory blood microbiome-based estimation.

Keywords: coronary artery disease, blood microbiome, machine learning, angiography, next-generation sequencing

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Authors: Ioannis Panagiotopoulos, Aristidis Anastasakis, Konstantinos Toutouzas, Ioannis Iakovou, Charalampos Vlachopoulos, Vasilis Voudris, Georgios Tziomalos, Konstantinos Tsioufis, Efstathios Kastritis, Alexandros Briassoulis, Kimon Stamatelopoulos, Alexios Antonopoulos, Paraskevi Exadaktylou, Evanthia Giannoula, Anastasia Katinioti, Maria Kalantzi, Evangelos Leontiadis, Eftychia Smparouni, Ioannis Malakos, Nikolaos Aravanis, Argyrios Doumas, Maria Koutelou

Abstract:

Introduction: Cardiac amyloidosis from Transthyretin (ATTR-CA) is an infiltrative disease characterized by the deposition of pathological transthyretin complexes in the myocardium. This study describes the characteristics of patients diagnosed with ATTR-CA from 2019 until present at the Nuclear Medicine Department of Onassis Cardiac Surgery Center and AHEPA Hospital. These centers have extensive experience in amyloidosis and modern technological equipment for its diagnosis. Materials and Methods: Records of consecutive patients (N=73) diagnosed with any type of amyloidosis were collected, analyzed, and prospectively followed. The diagnosis of amyloidosis was made using specific myocardial scintigraphy with Tc-99m DPD. Demographic characteristics, including age, gender, marital status, height, and weight, were collected in a database. Clinical characteristics, such as amyloidosis type (ATTR and AL), serum biomarkers (BNP, troponin), electrocardiographic findings, ultrasound findings, NYHA class, aortic valve replacement, device implants, and medication history, were also collected. Some of the most significant results are presented. Results: A total of 73 cases (86% male) were diagnosed with amyloidosis over four years. The mean age at diagnosis was 82 years, and the main symptom was dyspnea. Most patients suffered from ATTR-CA (65 vs. 8 with AL). Out of all the ATTR-CA patients, 61 were diagnosed with wild-type and 2 with two rare mutations. Twenty-eight patients had systemic amyloidosis with extracardiac involvement, and 32 patients had a history of bilateral carpal tunnel syndrome. Four patients had already developed polyneuropathy, and the diagnosis was confirmed by DPD scintigraphy, which is known for its high sensitivity. Among patients with isolated cardiac involvement, only 6 had left ventricular ejection fraction below 40%. The majority of ATTR patients underwent tafamidis treatment immediately after diagnosis. Conclusion: In conclusion, the experiences shared by the two centers and the continuous exchange of information provide valuable insights into the diagnosis and management of cardiac amyloidosis. Clinical suspicion of amyloidosis and early diagnostic approach are crucial, given the availability of non-invasive techniques. Cardiac scintigraphy with DPD can confirm the presence of the disease without the need for a biopsy. The ultimate goal still remains continuous education and awareness of clinical cardiologists so that this systemic and treatable disease can be diagnosed and certified promptly and treatment can begin as soon as possible.

Keywords: amyloidosis, diagnosis, myocardial scintigraphy, Tc-99m DPD, transthyretin

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